CAVIN1 | Belgian Genetic Tests database

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Name:	caveolae associated protein 1
Symbol:	CAVIN1
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	CGL4 cavin-1 congenital generalized lipodystrophy 4
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM Reactome SwissProt
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCB11	99.86	1
ABCB4	99.71	1
ABCC2	99.94	1
ABCD3	92.70	1
ABCG5	99.96	1
ABCG8	99.95	1
ACADM	96.14	1
ACADVL	100.00	1
ACAT1	99.81	1
ACOX2	99.81	1
ADK	99.78	1
AGL	97.67	1
AGPAT2	100.00	1
AKR1D1	99.91	1
ALAD	99.99	1
ALDOA	100.00	1
ALDOB	100.00	1
ALG8	95.49	1
ALG9	99.73	1
ALMS1	99.90	1
AMACR	100.00	1
ANKS6	100.00	1
AP1S1	99.49	1
ARG1	99.95	1
ASL	99.98	1
ASS1	77.52	1
ATP7B	100.00	1
ATP8B1	99.94	1
BAAT	99.98	1
BCS1L	99.99	1
BSCL2	99.99	1
BTD	100.00	1
CAVIN1	100.00	1
CC2D2A	99.95	1
CCDC115	99.90	1
CFTR	99.45	1
CLDN1	99.99	1
COG6	99.86	1
COG7	99.74	1
CYP21A2	99.91	1
CPT1A	99.98	1
CPT2	99.65	1
CREB3L3	99.98	1
CYP27A1	100.00	1
CYP7A1	99.99	1
CYP7B1	99.82	1
DCDC2	99.96	1
DGUOK	99.93	1
DHCR7	99.97	1
DKC1	99.59	1
DLD	99.89	1
DNAJB11	99.97	1
EHHADH	99.99	1
EIF2AK3	97.43	1
ENO3	100.00	1
EPHX1	99.97	1
EPM2A	99.99	1
ETFA	99.88	1
ETFB	100.00	1
FANCA	99.98	1
FARSA	100.00	1
FARSB	99.64	1
FBP1	100.00	1
FTH1	22.62	1
G6PC1	99.93	1
GAA	100.00	1
GALE	99.90	1
GALK1	100.00	1
GALM	100.00	1
GALT	100.00	1
GANAB	99.97	1
GBA1	96.92	1
GBE1	99.73	1
GFM1	99.95	1
GNAS	100.00	1
GUSB	95.07	1
GYS1	99.98	1
GYS2	99.86	1
HADHA	99.98	1
HAMP	99.99	1
HFE	100.00	1
HJV	99.99	1
HLCS	99.97	1
HNF1B	100.00	1
HSD17B4	99.71	1
HSD3B7	100.00	1
IARS1	99.89	1
IFT140	100.00	1
INVS	99.94	1
IVD	100.00	1
JAG1	100.00	1
KIF12	99.99	1
KRT18	47.42	1
KRT8	71.60	1
LAMP2	98.95	1
LARS1	99.87	1
LDHA	99.94	1
LIPA	99.96	1
LRP5	99.95	1
LSR	99.98	1
MARS1	99.97	1
MCEE	99.90	1
MKS1	99.92	1
MMUT	99.68	1
MPI	99.95	1
MPV17	99.98	1
MVK	99.97	1
MYO5B	100.00	1
NBAS	99.86	1
NEK9	99.99	1
NEU1	99.98	1
NGLY1	99.93	1
NHLRC1	100.00	1
NOTCH2	99.03	1
NPC1	99.99	1
NPC2	100.00	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR1H4	99.49	1
OXCT1	99.82	1
PODXL	99.99	1
PCCA	99.90	1
PCCB	99.97	1
PEX1	98.80	1
PEX10	100.00	1
PEX11B	99.62	1
PEX12	100.00	1
PEX13	99.36	1
PEX14	100.00	1
PEX16	99.94	1
PEX19	99.25	1
PEX2	100.00	1
PEX26	100.00	1
PEX3	99.85	1
PEX5	99.89	1
PEX6	99.99	1
PEX7	99.72	1
PFKM	99.57	1
PGAM2	100.00	1
PGK1	99.93	1
PGM1	96.77	1
PHKA1	99.84	1
PHKA2	99.92	1
PHKB	99.69	1
PHKG2	99.86	1
PKD1	99.98	1
PKD2	99.91	1
PKHD1	99.95	1
PMM2	99.93	1
PNPLA3	100.00	1
POLG	100.00	1
PPM1F	100.00	1
PRKAG2	99.96	1
PRKCSH	99.99	1
PYGL	99.99	1
PYGM	99.96	1
RBCK1	100.00	1
RINT1	99.99	1
RPGRIP1L	96.35	1
SBDS	99.93	1
SCO1	99.98	1
SEC63	99.84	1
SERPINA1	100.00	1
SLC10A1	99.99	1
SLC10A2	99.99	1
SLC16A1	99.26	1
SLC25A13	99.67	1
SLC25A20	100.00	1
SLC2A2	99.96	1
SLC30A10	99.99	1
SLC51A	100.00	1
SLCO1B1	98.69	1
SLCO1B3	99.85	1
SMPD1	100.00	1
PMP22	99.99	1
STN1	99.88	1
STT3B	99.96	1
TALDO1	100.00	1
TANGO2	99.85	1
TFR2	99.97	1
TJP2	99.99	1
TMEM216	99.98	1
TMEM67	99.69	1
TRMU	100.00	1
SKIC3	99.82	1
TWNK	100.00	1
UGT1A1	99.98	1
UNC45A	100.00	1
UROS	100.00	1
USP53	99.92	1
UTP4	99.91	1
VIPAS39	99.87	1
VPS33B	99.95	1
VPS50	98.35	1
WDR83OS	100.00	1
YARS1	99.29	1
ZFYVE19	99.99	1

Intellectual disability/Epilepsy (1091 genes) - ULG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	99.35	Vissers et al., EJHG 2015 : Noonan syndrome
ABCC9	99.41	Hypertrichotic osteochondrodysplasia
ABCD1	99.49	Adrenoleukodystrophy
ABHD5	98.48	Chanarin-Dorfman syndrome
ACAD9	99.57	Mitochondrial complex I deficiency due to ACAD9 deficiency
ACO2	99.66	Infantile cerebellar-retinal degeneration
ACOX1	99.49	Peroxisomal acyl-CoA oxidase deficiency
ACSL4	91.09	Mental retardation, X-linked 63
ACTB	99.34	Baraitser-Winter syndrome 1
ACTG1	99.69	Baraitser-Winter syndrome 2
ACY1	99.67	Aminoacylase 1 deficiency
ADAR	99.45	Aicardi-Goutieres syndrome 6
ADAT3	81.40	Mental retardation, autosomal recessive 36
ADGRG1	99.67	Polymicrogyria, bilateral frontoparietal
ADK	98.74	Hypermethioninemia due to adenosine kinase deficiency
ADNP	99.55	Helsmoortel-van der Aa syndrome
ADSL	99.58	Adenylosuccinase deficiency
AFF2	90.80	Mental retardation, X-linked, FRAXE type
AGA	99.60	Aspartylglucosaminuria
AGPAT2	91.26	Lipodystrophy, congenital generalized, type 1
AHCY	99.67	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHDC1	99.68	Xia-Gibbs syndrome
AHI1	99.05	Joubert syndrome 3
AIMP1	96.88	Leukodystrophy, hypomyelinating, 3
AKT3	98.82	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
ALDH18A1	99.66	Cutis laxa, autosomal recessive, type IIIA
ALDH3A2	99.31	Sjogren-Larsson syndrome
ALDH4A1	96.44	Hyperprolinemia, type II
ALDH5A1	93.04	Succinic semialdehyde dehydrogenase deficiency
ALDH7A1	99.00	Epilepsy, pyridoxine-dependent
ALG1	99.43	Congenital disorder of glycosylation, type Ik
ALG11	99.57	Congenital disorder of glycosylation, type Ip
ALG12	99.69	Congenital disorder of glycosylation, type Ig
ALG13	92.88	Epileptic encephalopathy, early infantile, 36
ALG2	97.14	Myasthenic syndrome, congenital, 14, with tubular aggregates
ALG3	99.59	Congenital disorder of glycosylation, type Id
ALG6	98.36	Congenital disorder of glycosylation, type Ic
ALG9	96.33	Gillessen-Kaesbach-Nishimura syndrome
ALMS1	98.27	Alstrom syndrome
ALX1	99.52	Frontonasal dysplasia 3
ALX4	99.07	Frontonasal dysplasia 2
AMER1	99.96	Osteopathia striata with cranial sclerosis
AMPD2	99.69	Pontocerebellar hypoplasia, type 9
AMT	99.69	Glycine encephalopathy
ANK3	99.47	Mental retardation, autosomal recessive, 37
ANKH	99.64	Craniometaphyseal dysplasia
ANKRD11	99.68	KBG syndrome
AP1S1	99.50	MEDNIK syndrome
AP1S2	88.78	Mental retardation, X-linked syndromic 5
AP4B1	99.61	Spastic paraplegia 47, autosomal recessive
AP4M1	99.68	Spastic paraplegia 50, autosomal recessive
AP4S1	99.48	Spastic paraplegia 52, autosomal recessive
APTX	99.02	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ARCN1	99.27	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
ARFGEF2	99.31	Periventricular heterotopia with microcephaly
ARG1	99.53	Argininemia
ARHGAP31	99.60	Adams-Oliver syndrome 1
ARHGEF2	99.64	Neurodevelopmental disorder with midbrain and hindbrain malformations
ARHGEF9	97.26	Epileptic encephalopathy, early infantile, 8
ARID1A	97.02	Coffin-Siris syndrome 2
ARID1B	97.57	Coffin-Siris syndrome 1
ARID2	99.33	Coffis-Siris syndrome 6
ARL13B	98.36	Joubert syndrome 8
ARL6	99.09	Bardet-Biedl syndrome 3
ARSL	90.38	Chondrodysplasia punctata, X-linked recessive
ARX	65.25	Mental retardation, X-linked 29 and others
ASH1L	99.53	Okamoto et al., AJMG 2017 : MCA/ID syndrome
ASNS	99.42	Asparagine synthetase deficiency
ASPA	99.17	Canavan disease
ASPM	98.50	Microcephaly 5, primary, autosomal recessive
ASXL1	95.03	Bohring-Opitz syndrome
ASXL3	98.20	Bainbridge-Ropers syndrome
ATIC	96.73	AICA-ribosiduria due to ATIC deficiency
ATP6V0A2	99.12	Cutis laxa, autosomal recessive, type IIA
ATP7A	94.32	Menkes disease
ATR	99.17	Seckel syndrome 1
ATRIP	95.19	Ogi et al., PLoS Genet 2012 : Seckel syndrome
ATRX	92.10	Mental retardation-hypotonic facies syndrome, X-linked
AUH	96.75	3-methylglutaconic aciduria, type I
AUTS2	97.55	Mental retardation, autosomal dominant 26
B3GLCT	92.21	Peters-plus syndrome
B4GALT1	98.41	Congenital disorder of glycosylation, type IId
B4GALT7	83.36	Ehlers-Danlos syndrome with short stature and limb anomalies
BBIP1	99.64	Bardet-Biedl syndrome 18
BBS1	99.66	Bardet-Biedl syndrome 1
BBS10	99.57	Bardet-Biedl syndrome 10
BBS12	99.52	Bardet-Biedl syndrome 12
BBS2	99.32	Bardet-Biedl syndrome 2
BBS4	99.49	Bardet-Biedl syndrome 4
BBS5	98.49	Bardet-Biedl syndrome 5
BBS7	99.00	Bardet-Biedl syndrome 7
BBS9	98.68	Bardet-Biedl syndrome 9
BCKDHB	98.82	Maple syrup urine disease, type Ib
BCL11A	99.16	Dias-Logan syndrome
BCOR	96.85	Microphthalmia, syndromic 2
BCS1L	99.69	Leigh syndrome
BLM	99.07	Bloom syndrome
BRAF	94.78	Noonan syndrome 7
BRPF1	99.67	Intellectual developmental disorder with dysmorphic facies and ptosis
BRWD3	93.74	Mental retardation, X-linked 93
BSCL2	99.67	Encephalopathy, progressive, with or without lipodystrophy
BTD	99.68	Biotinidase deficiency
BUB1B	99.40	Mosaic variegated aneuploidy syndrome 1
C12ORF57	99.69	Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, Ã©pilepsie.
C19ORF12	99.69	Neurodegeneration with brain iron accumulation 4
C2CD3	99.44	Orofaciodigital syndrome XIV
CPLANE1	98.89	Joubert syndrome 17
CA8	99.19	Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
CACNA1A	99.12	Epileptic encephalopathy, early infantile, 42
CACNA1C	99.65	Timothy syndrome
CACNA1D	99.50	Primary aldosteronism, seizures, and neurologic abnormalities
CAMK2A	99.67	Mental retardation, autosomal dominant 53
CAMK2B	96.34	Mental retardation, autosomal dominant 54
CANT1	99.60	Desbuquois dysplasia 1
CASK	95.36	Mental retardation and microcephaly with pontine and cerebellar hypoplasia
CAV1	99.67	Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CAVIN1	99.31	Lipodystrophy, congenital generalized, type 4
CBL	99.54	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBS	99.69	Homocystinuria, B6-responsive and nonresponsive types
CC2D1A	99.64	Mental retardation, autosomal recessive 3
CC2D2A	99.11	Joubert syndrome 9
CCDC22	99.91	Ritscher-Schinzel syndrome 2
CCDC39	98.07	Ciliary dyskinesia, primary, 14
CCDC78	99.69	Myopathy, centronuclear, 4
CCDC88C	99.38	Hydrocephalus, nonsyndromic, autosomal recessive
CD96	99.13	C syndrome
CDC45	99.57	Meier-Gorlin syndrome 7
CDC6	99.32	Meier-Gorlin syndrome 5
CDH15	96.19	Mental retardation, autosomal dominant 3
CDK13	95.39	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
CDK5RAP2	99.45	Microcephaly 3, primary, autosomal recessive
CDKL5	87.62	Epileptic encephalopathy, early infantile, 2
CDON	98.90	Holoprosencephaly 11
CDT1	89.72	Meier-Gorlin syndrome 4
CENPJ	99.19	Microcephaly 6, primary, autosomal recessive
CEP135	97.81	Microcephaly 8, primary, autosomal recessive
CEP152	98.40	Microcephaly 9, primary, autosomal recessive
CEP290	97.64	Joubert syndrome 5
CEP41	99.07	Joubert syndrome 15
CEP57	99.09	Mosaic variegated aneuploidy syndrome 2
CEP63	99.06	Seckel syndrome 6
CHAMP1	99.63	Mental retardation, autosomal dominant 40
CHAT	97.70	Myasthenic syndrome, congenital, 6, presynaptic
CHD2	99.18	Epileptic encephalopathy, childhood-onset
CHD4	99.65	Sifrim-Hitz-Weiss syndrome
CHD7	99.53	CHARGE syndrome
CHD8	99.58	Autism, susceptibility to, 18
CHKB	97.97	Muscular dystrophy, congenital, megaconial type
CHMP1A	99.59	Pontocerebellar hypoplasia, type 8
CHRNA4	90.96	Epilepsy, nocturnal frontal lobe, 1
CHRND	99.68	Myasthenic syndrome, congenital, 3B, fast-channel
CISD2	98.61	Wolfram syndrome 2
CLCN4	99.27	Mental retardation, X-linked 49/15
CLN3	99.69	Ceroid lipofuscinosis, neuronal, 3
CLN5	97.69	Ceroid lipofuscinosis, neuronal, 5
CLN6	85.06	Ceroid lipofuscinosis, neuronal, 6
CLN8	99.69	Ceroid lipofuscinosis, neuronal, 8
CLP1	99.68	Pontocerebellar hypoplasia, type 10
CLPB	99.62	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
CNKSR2	91.50	Houge et al., Mol Syndromol 2012 : ID
CNTNAP2	99.39	Pitt-Hopkins like syndrome 1
COASY	99.68	Neurodegeneration with brain iron accumulation 6
COG1	98.34	Congenital disorder of glycosylation, type IIg
COG5	99.11	Congenital disorder of glycosylation, type IIi
COG6	98.39	Congenital disorder of glycosylation, type IIl
COG7	99.66	Congenital disorder of glycosylation, type IIe
COG8	97.38	Congenital disorder of glycosylation, type IIh
COL4A1	97.86	Porencephaly 1
COL4A2	99.62	Porencephaly 2
CERT1	99.15	Mental retardation, autosomal dominant 34
COLEC10	99.16	Mental retardation, autosomal dominant 34
COLEC11	99.67	3MC syndrome 2
COQ2	94.52	Coenzyme Q10 deficiency, primary, 1
COQ4	98.74	Coenzyme Q10 deficiency, primary, 7
COQ6	99.60	Coenzyme Q10 deficiency, primary, 6
COQ7	99.40	Coenzyme Q10 deficiency, primary, 8
COQ8A	99.69	Coenzyme Q10 deficiency, primary, 4
COQ9	98.23	Coenzyme Q10 deficiency, primary, 5
COX10	99.65	Leigh syndrome due to mitochondrial COX4 deficiency
CRADD	99.63	Mental retardation, autosomal recessive 34, with variant lissencephaly
CRBN	98.86	Mental retardation, autosomal recessive 2
CREBBP	99.62	Rubinstein-Taybi syndrome 1
CSNK2A1	99.32	Okur-Chung neurodevelopmental syndrome
CSPP1	98.95	Joubert syndrome 21
CTC1	99.57	Cerebroretinal microangiopathy with calcifications and cysts
CTCF	99.65	Mental retardation, autosomal dominant 21
CTNNB1	99.65	Mental retardation, autosomal dominant 19
CTSA	99.59	Galactosialidosis
CTSD	94.51	Ceroid lipofuscinosis, neuronal, 10
CUL4B	84.65	Mental retardation, X-linked, syndromic 15 (Cabezas type)
CYB5R3	88.44	Methemoglobinemia, type I
CYP27A1	97.94	Cerebrotendinous xanthomatosis
D2HGDH	98.50	D-2-hydroxyglutaric aciduria
DAG1	99.69	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9
DARS2	99.20	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DCAF17	93.81	Woodhouse-Sakati syndrome
DCC	99.55	Mirror movements 1 and/or agenesis of the corpus callosum
DCPS	99.69	Al-Raqad syndrome
DCX	96.94	Lissencephaly, X-linked
DDB2	99.69	Xeroderma pigmentosum, group E, DDB-negative subtype
DDHD2	97.74	Spastic paraplegia 54, autosomal recessive
DDX11	99.66	Warsaw breakage syndrome
DDX3X	96.52	Mental retardation, X-linked 102
DEAF1	92.63	Mental retardation, autosomal dominant 24
DHCR24	99.34	Desmosterolosis
DHCR7	99.68	Smith-Lemli-Opitz syndrome
DHFR	98.50	Megaloblastic anemia due to dihydrofolate reductase deficiency
DHX30	99.51	Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities.
DIAPH1	95.85	Seizures, cortical blindness, microcephaly syndrome
DKC1	91.60	Dyskeratosis congenita, X-linked
DLD	99.08	Dihydrolipoamide dehydrogenase deficiency
DLG3	98.91	Mental retardation, X-linked 90
DLL4	99.61	Adams-Oliver syndrome 6
DNAJC19	97.60	3-methylglutaconic aciduria, type V
DNM1	96.84	Epileptic encephalopathy, early infantile, 31
DNMT3A	99.69	Tatton-Brown-Rahman syndrome
DNMT3B	99.69	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DOCK6	97.92	Adams-Oliver syndrome 2
DOCK8	99.24	Hyper-IgE recurrent infection syndrome, autosomal recessive
DPAGT1	99.68	Congenital disorder of glycosylation, type Ij
DPH1	99.67	Developmental delay with short stature, dysmorphic features, and sparse hair
DPM1	99.27	Congenital disorder of glycosylation, type Ie
DPP6	99.57	Mental retardation, autosomal dominant 33
DSCAM	99.29	Wang et al., Nat Commun 2016 : Autisme
DYNC1H1	99.50	Mental retardation, autosomal dominant 13
DYRK1A	99.53	Mental retardation, autosomal dominant 7
EARS2	99.64	Combined oxidative phosphorylation deficiency 12
EBF3	98.59	Hypotonia, ataxia, and delayed development syndrome
EBP	99.89	MEND syndrome
ECHS1	98.49	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EDC3	99.68	Mental retardation, autosomal recessive 50
EEF1A2	88.74	Mental retardation, autosomal dominant 38
EFNB1	99.39	Craniofrontonasal dysplasia
EFTUD2	99.44	Mandibulofacial dysostosis, Guion-Almeida type
EHMT1	95.40	Kleefstra syndrome
EIF2AK3	94.12	Wolcott-Rallison syndrome
EIF2S3	97.88	Mental retardation, X-linked, syndromic, Borck type
ELOVL4	99.45	Ichthyosis, spastic quadriplegia, and mental retardation
ELP2	98.99	Mental retardation, autosomal recessive 58
EML1	96.28	Band heterotopia
EMX2	99.48	Schizencephaly
ENTPD1	99.05	Spastic paraplegia 64, autosomal recessive
EOGT	99.33	Adams-Oliver syndrome 4
EP300	99.56	Rubinstein-Taybi syndrome 2
EPB41L1	99.69	Mental retardation, autosomal dominant 11
EPG5	99.47	Vici syndrome
ERCC2	99.67	Cerebrooculofacioskeletal syndrome 2
ERCC3	99.68	Xeroderma pigmentosum, group B
ERCC4	99.35	Xeroderma pigmentosum, type F/Cockayne syndrome
ERCC5	99.48	Xeroderma pigmentosum, group G/Cockayne syndrome
ERCC6	99.07	Cerebrooculofacioskeletal syndrome 1
ERCC8	99.27	Cockayne syndrome, type A
ERLIN2	99.32	Spastic paraplegia 18, autosomal recessive
ESCO2	98.50	Roberts syndrome
ETHE1	99.60	Ethylmalonic encephalopathy
EXOSC3	99.53	Pontocerebellar hypoplasia, type 1B
EZH2	99.41	Weaver syndrome
EZR	99.63	Riecken et al., Hum Mut 2015 : ID
HYCC1	98.81	Leukodystrophy, hypomyelinating, 5
FARS2	99.56	Combined oxidative phosphorylation deficiency 14
FAT4	99.39	Van Maldergem syndrome 2
FBXL4	99.46	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)
FBXO31	93.34	Mental retardation, autosomal recessive 45
FGD1	98.23	Mental retardation, X-linked syndromic 16
FGFR1	99.69	Hypogonadotropic hypogonadism 2 with or without anosmia
FGFR2	99.67	Saethre-Chotzen syndrome
FGFR3	95.86	Crouzon syndrome with acanthosis nigricans
FH	99.29	Fumarase deficiency
FKRP	85.03	Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
FKTN	99.13	Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
FLNA	99.73	Heterotopia, periventricular
FMN2	99.05	Mental retardation, autosomal recessive 47
FMR1	94.48	Fragile X tremor/ataxia syndrome
FOLR1	99.69	Neurodegeneration due to cerebral folate transport deficiency
FOXG1	84.20	Rett syndrome, congenital variant
FOXP1	99.55	Mental retardation with language impairment and with or without autistic features
FOXP2	99.34	Speech-language disorder-1
FOXRED1	99.63	Leigh syndrome due to mitochondrial complex I deficiency
FRAS1	99.57	Fraser syndrome 1
FREM2	99.23	Fraser syndrome 2
FRMPD4	96.56	Mental retardation, X-linked 104
FTCD	95.82	Glutamate formiminotransferase deficiency
FTL	99.55	Neurodegeneration with brain iron accumulation 3
FTO	99.47	Growth retardation, developmental delay, facial dysmorphism
FTSJ1	99.69	Mental retardation, X-linked 9/44
FUCA1	98.18	Fucosidosis
GABRA3	87.08	Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus.
GABRB3	94.66	Epileptic encephalopathy, early infantile, 43
GABRG2	99.57	Epilepsy, generalized, with febrile seizures plus, type 3
GALT	99.68	Galactosemia
GAMT	93.42	Cerebral creatine deficiency syndrome 2
GAN	98.90	Giant axonal neuropathy-1
GATAD2B	99.69	Mental retardation, autosomal dominant 18
GATM	94.01	Cerebral creatine deficiency syndrome 3
GBE1	98.82	Glycogen storage disease IV
GCH1	93.92	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia
GCSH	86.02	Glycine encephalopathy
GDI1	95.21	Mental retardation, X-linked 41
GFAP	99.69	Alexander disease
GJC2	73.70	Leukodystrophy, hypomyelinating, 2
GLB1	99.56	GM1-gangliosidosis, type I
GLDC	97.83	Glycine encephalopathy
GLI2	98.60	Holoprosencephaly 9
GLI3	99.55	Greig cephalopolysyndactyly syndrome
GLUL	99.68	Glutamine deficiency, congenital
GLYCTK	99.69	D-glyceric aciduria
GM2A	99.68	GM2-gangliosidosis, AB variant
GMPPA	99.69	Alacrima, achalasia, and mental retardation syndrome
GMPPB	99.64	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
GNAI3	99.08	Auriculocondylar syndrome 1
GNAO1	99.66	Epileptic encephalopathy, early infantile, 17
GNAS	97.96	Pseudohypoparathyroidism Ia
GNPAT	97.06	Rhizomelic chondrodysplasia punctata, type 2
GNPTAB	99.49	Mucolipidosis II alpha/beta
GNPTG	90.19	Mucolipidosis III gamma
GNS	99.55	Mucopolysaccharidosis type IIID
GPC3	91.66	Simpson-Golabi-Behmel syndrome, type 1
GPHN	99.58	Molybdenum cofactor deficiency C
GPSM2	99.10	Chudley-McCullough syndrome
GPT2	95.20	Mental retardation, autosomal recessive 49
GRIA3	89.99	Mental retardation, X-linked 94
GRID2	99.47	Spinocerebellar ataxia, autosomal recessive 18
GRIK2	99.13	Mental retardation, autosomal recessive, 6
GRIN1	99.54	Mental retardation, autosomal dominant 8
GRIN2A	99.68	Epilepsy, focal, with speech disorder and with or without mental retardation
GRIN2B	99.66	Mental retardation, autosomal dominant 6
GRIP1	99.65	Fraser syndrome 3
GRM1	99.46	Spinocerebellar ataxia 44
GSS	99.59	Glutathione synthetase deficiency
GTF2E2	98.86	Trichothiodystrophy 6, nonphotosensitive
GTF2H5	99.64	Trichothiodystrophy 3, photosensitive
GTPBP3	97.37	Combined oxidative phosphorylation deficiency 23
GUSB	98.73	Mucopolysaccharidosis VII
HACE1	96.37	Spastic paraplegia and psychomotor retardation with or without seizures
HCFC1	99.76	Spastic paraplegia and psychomotor retardation with or without seizures
HCN1	94.14	Epileptic encephalopathy, early infantile, 24
HDAC4	99.68	Fisch et al., AJMG 2016 : ID
HDAC8	99.17	Cornelia de Lange syndrome 5
HECW2	99.50	Neurodevelopmental disorder with hypotonia, seizures, and absent language
HEPACAM	91.30	Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
HERC1	99.49	Macrocephaly, dysmorphic facies, and psychomotor retardation
HERC2	99.66	Mental retardation, autosomal recessive 38
HESX1	98.36	Growth hormone deficiency with pituitary anomalies
HEXA	99.67	Tay-Sachs disease
HEXB	97.84	Sandhoff disease, infantile, juvenile, and adult forms
HGSNAT	94.00	Mucopolysaccharidosis type IIIC (Sanfilippo C)
HIVEP2	99.60	Mental retardation, autosomal dominant 43
HLCS	99.60	Holocarboxylase synthetase deficiency
HNMT	99.26	Mental retardation, autosomal recessive 51
HNRNPH2	99.85	Mental retardation, X-linked, syndromic, Bain type
HNRNPK	99.17	Au-Kline syndrome
HNRNPU	98.33	Epileptic encephalopathy, early infantile, 54
HOXA1	99.65	Athabaskan brainstem dysgenesis syndrome
HPRT1	75.78	Lesch-Nyhan syndrome
HRAS	99.69	Costello syndrome
HSD17B10	99.97	HSD10 mitochondrial disease
HSPG2	98.62	Dyssegmental dysplasia, Silverman-Handmaker type
HUWE1	97.92	Mental retardation, X-linked syndromic, Turner type
IARS1	99.32	Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
IARS2	99.11	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
IDS	97.07	Mucopolysaccharidosis II
IDUA	77.72	Mucopolysaccharidosis Ih/s
IER3IP1	98.86	Microcephaly, epilepsy, and diabetes syndrome
IFIH1	99.07	Aicardi-Goutieres syndrome 7
IFT172	99.62	Short-rib thoracic dysplasia 10 with or without polydactyly
IFT27	99.69	Bardet-Biedl syndrome 19
IFT57	98.66	Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome
IGF1	99.63	Growth retardation with deafness and mental retardation due to IGF1 deficiency
IL1RAPL1	93.86	Mental retardation, X-linked 21/34
INPP5E	98.14	Joubert syndrome 1
INTU	98.49	Bruel et al., JMG 2017 : oro-facial-digital syndrome
IQSEC2	97.05	Mental retardation, X-linked 1/78
IRX5	89.09	Hamamy syndrome
CRPPA	92.51	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
ITGA7	99.67	Muscular dystrophy, congenital, due to ITGA7 deficiency
ITPR1	99.38	Spinocerebellar ataxia 29, congenital nonprogressive
JAM3	99.20	Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
KANSL1	99.63	Koolen-De Vries syndrome
KAT6A	99.60	Mental retardation, autosomal dominant 32
KAT6B	99.21	Genitopatellar syndrome
KCNC1	99.05	Epilepsy, progressive myoclonic 7
KCNC3	76.28	Spinocerebellar ataxia 13
KCNH1	98.56	Temple-Baraitser syndrome
KCNJ10	99.68	SESAME syndrome
KCNJ11	99.69	Diabetes, permanent neonatal, with or without neurologic features
KCNK9	99.67	Birk-Barel mental retardation dysmorphism syndrome
KCNMA1	99.54	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
KCNQ2	98.93	Epileptic encephalopathy, early infantile, 7
KCNQ5	96.45	Mental retardation, autosomal dominant 46
KCNT1	98.70	Epileptic encephalopathy, early infantile, 14
KCTD7	95.20	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KDM1A	96.83	Cleft palate, psychomotor retardation, and distinctive facial features
KDM5C	99.87	Mental retardation, X-linked, syndromic, Claes-Jensen type
KDM6A	94.07	Kabuki syndrome 2
KIAA0586	92.34	Joubert syndrome 23
KIAA0753	99.23	Orofaciodigital syndrome XV
NEXMIF	97.66	Mental retardation, X-linked 98
KIF11	98.74	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
KIF1A	99.66	Mental retardation, autosomal dominant 9
KIFBP	96.44	Goldberg-Shprintzen megacolon syndrome
KIF4A	99.41	Mental retardation, X-linked 100
KIF5A	99.35	Myoclonus, intractable, neonatal
KIF5C	96.19	Cortical dysplasia, complex, with other brain malformations 2
KIF7	99.42	Joubert syndrome 12
KIRREL3	99.66	Mental retardation, autosomal dominant 4
KLC2	99.69	Spastic paraplegia, optic atrophy, and neuropathy
KMT2A	97.93	Wiedemann-Steiner syndrome
KMT2C	99.31	Kleefstra syndrome 2
KMT2D	99.67	Kabuki syndrome 1
KMT2E	98.54	Dong et al., Cell Rep 2014 : trouble du spectre autistique
KMT5B	99.31	Stessman et al., Nat Genet 2017 : autisme et retard dÃ©veloppemental
KNL1	92.70	Microcephaly 4, primary, autosomal recessive
KPTN	99.37	Mental retardation, autosomal recessive 41
KRAS	99.32	Noonan syndrome 3
L1CAM	99.66	CRASH syndrome
L2HGDH	98.45	L-2-hydroxyglutaric aciduria
LAMA1	99.13	Poretti-Boltshauser syndrome
LAMA2	99.46	Muscular dystrophy, congenital, due to partial LAMA2 deficiency
LAMB1	99.50	Lissencephaly 5
LAMC3	97.99	Cortical malformations, occipital
LAMP2	93.32	Danon disease
LARGE1	99.64	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LARP7	97.40	Alazami syndrome
LAS1L	99.76	Wilson-Turner syndrome
LIAS	98.94	Hyperglycinemia, lactic acidosis, and seizures
LIG4	99.55	LIG4 syndrome
LINS1	98.65	Mental retardation, autosomal recessive 27
LIPT1	98.69	Lipoyltransferase 1 deficiency
LMBRD1	96.94	Methylmalonic aciduria and homocystinuria, cblF type
LMNA	99.49	Emery-Dreifuss muscular dystrophy 3, AR
LRP2	99.40	Donnai-Barrow syndrome
LZTFL1	98.67	Bardet-Biedl syndrome 17
LZTR1	99.56	Noonan syndrome 10
MAGEL2	98.06	Schaaf-Yang syndrome
MAN1B1	98.88	Mental retardation, autosomal recessive 15
MAN2B1	99.40	Mannosidosis, alpha-, types I and II
MANBA	99.01	Mannosidosis, beta
MAOA	85.51	Brunner syndrome
MAP2K1	99.62	Cardiofaciocutaneous syndrome 3
MAP2K2	99.01	Cardiofaciocutaneous syndrome 4
MASP1	99.59	3MC syndrome 1
MAT1A	99.66	Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
MBD5	99.52	Mental retardation, autosomal dominant 1
MBOAT7	99.50	Mental retardation, autosomal recessive 57
MBTPS2	96.46	IFAP syndrome with or without BRESHECK syndrome
MCCC1	99.50	3-Methylcrotonyl-CoA carboxylase 1 deficiency
MCOLN1	93.43	Mucolipidosis IV
MCPH1	98.40	Microcephaly 1, primary, autosomal recessive
MECP2	89.77	Rett syndrome
MED12	99.82	Opitz-Kaveggia syndrome
MED13L	99.52	Mental retardation and distinctive facial features with or without cardiac defects
MED17	98.79	Microcephaly, postnatal progressive, with seizures and brain atrophy
MED23	98.87	Mental retardation, autosomal recessive 18
MEF2C	99.52	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MEIS2	99.65	Cleft palate, cardiac defects, and mental retardation
METTL23	99.62	Mental retardation, autosomal recessive 44
MFSD8	99.30	Ceroid lipofuscinosis, neuronal, 7
MID1	97.46	Opitz GBBB syndrome, type I
MKKS	99.58	Bardet-Biedl syndrome 6
MKS1	99.54	Bardet-Biedl syndrome 13
MLYCD	87.33	Malonyl-CoA decarboxylase deficiency
MMACHC	99.68	Methylmalonic aciduria and homocystinuria, cblC type
MOCS1	99.68	Molybdenum cofactor deficiency A
MOCS2	99.48	Molybdenum cofactor deficiency B
MOGS	92.25	Congenital disorder of glycosylation, type IIb
MPDU1	99.69	Congenital disorder of glycosylation, type If
MPDZ	99.22	Hydrocephalus, nonsyndromic, autosomal recessive 2
MPLKIP	99.63	Trichothiodystrophy 4, nonphotosensitive
MTFMT	97.00	Combined oxidative phosphorylation deficiency 15
MTHFR	99.58	Homocystinuria due to MTHFR deficiency
MTM1	94.11	Myotubular myopathy, X-linked
MTOR	99.61	Smith-Kingsmore syndrome
MTR	99.55	Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR	99.33	Homocystinuria-megaloblastic anemia, cbl E type
MVK	99.69	Mevalonic aciduria
MYCN	82.91	Feingold syndrome 1
MYO5A	97.60	Griscelli syndrome, type 1
MYT1L	99.59	Mental retardation, autosomal dominant 39
NAA10	87.47	Ogden syndrome
NACC1	99.66	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
NAGA	99.67	Schindler disease, type I
NAGLU	84.28	Mucopolysaccharidosis type IIIB (Sanfilippo B)
NALCN	99.38	Congenital contractures of the limbs and face, hypotonia, and developmental delay
NARS2	98.96	Combined oxidative phosphorylation deficiency 24
NBN	98.67	Nijmegen breakage syndrome
NDE1	99.69	Lissencephaly 4 (with microcephaly)
NDP	99.56	Norrie disease
NDST1	99.67	Mental retardation, autosomal recessive 46
NDUFA1	97.69	Mitochondrial complex I deficiency
NDUFA11	99.69	Mitochondrial complex I deficiency
NDUFA12	99.64	Leigh syndrome due to mitochondrial complex 1 deficiency
NDUFA2	99.69	Leigh syndrome due to mitochondrial complex I deficiency
NDUFA9	99.27	Leigh syndrome due to mitochondrial complex I deficiency
NDUFAF6	89.55	Leigh syndrome due to mitochondrial complex I deficiency
NDUFS2	99.25	Mitochondrial complex I deficiency
NDUFS3	99.67	Leigh syndrome due to mitochondrial complex I deficiency
NDUFS4	99.05	Mitochondrial complex I deficiency
NDUFS7	99.38	Leigh syndrome
NEDD4L	98.92	Periventricular nodular heterotopia 7
NFIA	99.44	Brain malformations and urinary tract defects
NFIX	99.64	Sotos syndrome 2
NGF	99.66	Neuropathy, hereditary sensory and autonomic, type V
NHEJ1	99.67	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHP2	99.64	Dyskeratosis congenita, autosomal recessive 2
NHS	88.25	Nance-Horan syndrome
NIN	99.20	Seckel syndrome 7
NIPBL	98.53	Cornelia de Lange syndrome 1
NKX2-1	92.05	Choreoathetosis, hypothyroidism, and neonatal respiratory distress
NONO	98.37	Mental retardation, X-linked, syndromic 34
NOTCH1	96.74	Adams-Oliver syndrome 5
NPC1	98.34	Niemann-Pick disease, type C1
NPC2	99.67	Niemann-pick disease, type C2
NPHP1	99.24	Joubert syndrome 4
NPHP3	98.15	Meckel syndrome 7
NR2F1	86.66	Bosch-Boonstra-Schaaf optic atrophy syndrome
NR5A1	99.25	Adrenocortical insufficiency
NRAS	99.61	Noonan syndrome 6
NRXN1	99.52	Pitt-Hopkins-like syndrome 2
NSD1	99.26	Sotos syndrome 1
NSDHL	99.39	CHILD syndrome
NSUN2	95.86	Mental retardation, autosomal recessive 5
OCLN	99.47	Pseudo-TORCH syndrome 1
OCRL	92.17	Lowe syndrome
OFD1	92.99	Orofaciodigital syndrome I
OGT	96.41	Mental retardation, X-linked 106
OPHN1	90.64	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
ORC1	99.49	Meier-Gorlin syndrome 1
ORC4	98.60	Meier-Gorlin syndrome 2
ORC6	98.10	Meier-Gorlin syndrome 3
OSGEP	99.65	Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome
OTC	92.10	Ornithine transcarbamylase deficiency
OTUD6B	97.03	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
PACS1	97.17	Schuurs-Hoeijmakers syndrome
PAFAH1B1	98.98	Lissencephaly 1
PAH	99.66	Phenylketonuria
PAK3	87.10	Mental retardation, X-linked 30/47
PANK2	95.75	Neurodegeneration with brain iron accumulation 1
PAX1	82.57	Otofaciocervical syndrome 2
PAX3	99.68	Craniofacial-deafness-hand syndrome
PAX6	99.51	Aniridia
PC	99.69	Pyruvate carboxylase deficiency
PCDH19	99.22	Epileptic encephalopathy, early infantile, 9
PCGF2	99.69	Fitzgerald et al., Nature 2015 : retard mental, retard dÃ©velopemental
PCNT	99.50	Microcephalic osteodysplastic primordial dwarfism, type II
PDE4D	97.76	Acrodysostosis 2, with or without hormone resistance
PDHA1	97.16	Pyruvate dehydrogenase E1-alpha deficiency
PDHB	99.40	Pyruvate dehydrogenase E1-beta deficiency
PDHX	98.49	Lacticacidemia due to PDX1 deficiency
PDSS1	82.84	Coenzyme Q10 deficiency, primary, 2
PDSS2	98.95	Coenzyme Q10 deficiency, primary, 3
PEPD	99.61	Prolidase deficiency
PEX1	98.83	Peroxisome biogenesis disorder 1A (Zellweger)
PEX10	83.86	Peroxisome biogenesis disorder 6A (Zellweger)
PEX11B	99.63	Peroxisome biogenesis disorder 14B
PEX12	99.40	Peroxisome biogenesis disorder 3A (Zellweger)
PEX13	99.25	Peroxisome biogenesis disorder 11A (Zellweger)
PEX14	99.66	Peroxisome biogenesis disorder 13A (Zellweger)
PEX16	99.69	Peroxisome biogenesis disorder 8A (Zellweger)
PEX19	99.60	Peroxisome biogenesis disorder 12A (Zellweger)
PEX2	99.69	Peroxisome biogenesis disorder 5A (Zellweger)
PEX26	96.96	Peroxisome biogenesis disorder 7A (Zellweger)
PEX3	98.89	Peroxisome biogenesis disorder 10A (Zellweger)
PEX5	99.15	Peroxisome biogenesis disorder 2A (Zellweger)
PEX6	98.57	Peroxisome biogenesis disorder 4A (Zellweger)
PEX7	90.36	Peroxisome biogenesis disorder 9B
PGAP1	97.25	Mental retardation, autosomal recessive 42
PGAP2	99.68	Hyperphosphatasia with mental retardation syndrome 3
PGAP3	99.15	Hyperphosphatasia with mental retardation syndrome 4
PGK1	99.16	Phosphoglycerate kinase 1 deficiency
PHC1	99.66	Microcephaly 11, primary, autosomal recessive
PHF6	84.23	Borjeson-Forssman-Lehmann syndrome
PHF8	99.04	Mental retardation syndrome, X-linked, Siderius type
PHGDH	99.67	Phosphoglycerate dehydrogenase deficiency
PHIP	95.93	Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obÃ©sitÃ© et dysmorphies
PIGA	92.30	Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGG	99.54	Mental retardation, autosomal recessive 53
PIGL	99.59	CHIME syndrome
PIGN	97.78	Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGO	99.67	Hyperphosphatasia with mental retardation syndrome 2
PIGT	99.63	Multiple congenital anomalies-hypotonia-seizures syndrome 3
PIGV	99.66	Hyperphosphatasia with mental retardation syndrome 1
PIGW	99.68	Hyperphosphatasia with mental retardation syndrome 5
PIGY	99.66	Hyperphosphatasia with mental retardation syndrome 6
PIK3R2	91.70	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PLA2G6	99.69	Neurodegeneration with brain iron accumulation 2B
PLCB1	99.15	Epileptic encephalopathy, early infantile, 12
PLCB4	99.09	Auriculocondylar syndrome 2
PLOD1	98.58	Ehlers-Danlos syndrome, type VI
PLP1	99.86	Pelizaeus-Merzbacher disease
PMM2	98.47	Congenital disorder of glycosylation, type Ia
PNKP	99.68	Microcephaly, seizures, and developmental delay
PNP	99.66	Immunodeficiency due to purine nucleoside phosphorylase deficiency
POC1A	99.26	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
POGZ	98.81	White-Sutton syndrome
POLG	99.59	Mitochondrial DNA depletion syndrome 4B (MNGIE type)
POLH	99.55	Xeroderma pigmentosum, variant type
POLR3A	99.40	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
POLR3B	99.29	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
POMGNT1	99.66	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
POMGNT2	99.69	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
POMK	99.66	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
POMT1	99.56	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
POMT2	98.42	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
PORCN	99.91	Focal dermal hypoplasia
PPM1D	98.20	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
PPP1CB	99.40	Noonan syndrome-like disorder with loose anagen hair 2
PPP2R1A	99.69	Mental retardation, autosomal dominant 36
PPP2R5D	99.64	Mental retardation, autosomal dominant 35
PPT1	99.67	Ceroid lipofuscinosis, neuronal, 1
PQBP1	99.90	Renpenning syndrome
PRICKLE1	99.67	Epilepsy, progressive myoclonic 1B
PRMT7	99.21	Short stature, brachydactyly, intellectual developmental disability, and seizures
PRPS1	98.61	Arts syndrome
PRSS12	98.69	Mental retardation, autosomal recessive 1
PSAP	99.68	Krabbe disease, atypical
PSMD12	99.44	Stankiewicz-Isidor syndrome
PTCH1	97.64	Holoprosencephaly 7
PTCHD1	99.37	Autism, susceptibility to, X-linked 4
PTDSS1	99.56	Lenz-Majewski hyperostotic dwarfism
PTEN	98.68	Cowden syndrome 1
PTPN11	97.30	LEOPARD syndrome 1
PUF60	99.56	Verheij syndrome
PURA	84.89	Mental retardation, autosomal dominant 31
PUS1	93.31	Myopathy, lactic acidosis, and sideroblastic anemia 1
PYCR1	99.67	Cutis laxa, autosomal recessive, type IIB
QDPR	96.67	Hyperphenylalaninemia, BH4-deficient, C
RAB18	98.43	Warburg micro syndrome 3
RAB27A	95.80	Griscelli syndrome, type 2
RAB39B	99.96	Mental retardation, X-linked 72
RAB3GAP1	99.24	Warburg micro syndrome 1
RAB3GAP2	99.14	Martsolf syndrome
RAC1	87.43	Mental retardation, autosomal dominant 48
RAD21	99.34	Cornelia de Lange syndrome 4
RAF1	99.65	Noonan syndrome 5
RAI1	97.85	Smith-Magenis syndrome
RARB	99.52	Microphthalmia, syndromic 12
RARS2	99.20	Pontocerebellar hypoplasia, type 6
RASA2	95.15	Aoki et al., JHG 2016 : RASopathie
RAX	78.51	Microphthalmia, isolated 3
RBBP8	96.69	Seckel syndrome 2
RBM10	99.86	TARP syndrome
RBM28	99.55	Alopecia, neurologic defects, and endocrinopathy syndrome
RBM8A	99.68	Thrombocytopenia-absent radius syndrome
RBPJ	99.36	Adams-Oliver syndrome 3
RECQL4	91.13	Baller-Gerold syndrome
RELN	99.47	Lissencephaly 2 (Norman-Roberts type)
RERE	99.45	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart
RFT1	97.48	Congenital disorder of glycosylation, type In
RIT1	99.66	Noonan syndrome 8
RMND1	98.79	Combined oxidative phosphorylation deficiency 11
RNASEH2A	99.69	Aicardi-Goutieres syndrome 4
RNASEH2B	90.13	Aicardi-Goutieres syndrome 2
RNASEH2C	96.74	Aicardi-Goutieres syndrome 3
RNASET2	99.45	Leukoencephalopathy, cystic, without megalencephaly
RNF113A	99.85	Trichothiodystrophy 5, nonphotosensitive
ROGDI	90.00	Kohlschutter-Tonz syndrome
RPGRIP1L	95.44	Joubert syndrome 7
RPIA	98.01	Ribose 5-phosphate isomerase deficiency
RPS6KA3	85.79	Coffin-Lowry syndrome
RRAS	94.39	Flex et al., HMG 2014 : RASopathie
RTEL1	99.69	Dyskeratosis congenita, autosomal recessive 5
RTTN	98.71	Microcephaly, short stature, and polymicrogyria with seizures
SALL1	99.68	Townes-Brocks branchiootorenal-like syndrome
SAMHD1	99.47	Aicardi-Goutieres syndrome 5
SATB2	99.46	Glass syndrome
SC5D	99.08	Lathosterolosis
SCN1A	98.95	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
SCN2A	98.85	Epileptic encephalopathy, early infantile, 11
SCN8A	99.37	Epileptic encephalopathy, early infantile, 13
SCO2	99.68	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
SDCCAG8	99.19	Bardet-Biedl syndrome 16
SDHAF1	66.11	Mitochondrial complex II deficiency
SEPSECS	99.07	Pontocerebellar hypoplasia type 2D
SERAC1	98.98	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SETBP1	98.39	Mental retardation, autosomal dominant 29
SETD2	99.30	Luscan-Lumish syndrome
SETD5	99.55	Mental retardation, autosomal dominant 23
SGSH	96.47	Mucopolysaccharidosis type IIIA (Sanfilippo A)
SHANK2	83.77	Autism susceptibility 17
SHANK3	78.63	Phelan-McDermid syndrome
SHH	90.25	Holoprosencephaly 3
SHOC2	97.89	Noonan-like syndrome with loose anagen hair
SHROOM4	99.52	Stocco dos Santos X-linked mental retardation syndrome
SIL1	99.65	Marinesco-Sjogren syndrome
SIN3A	99.56	Witteveen-Kolk syndrome
SIX3	89.54	Holoprosencephaly 2
SKI	93.23	Shprintzen-Goldberg syndrome
SLC12A6	99.13	Agenesis of the corpus callosum with peripheral neuropathy
SLC16A2	99.71	Allan-Herndon-Dudley syndrome
SLC17A5	98.53	Salla disease
SLC19A3	99.50	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)
SLC1A4	97.40	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
SLC25A1	86.05	Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A12	99.45	Epileptic encephalopathy, early infantile, 39
SLC25A15	99.57	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19	99.66	Microcephaly, Amish type
SLC25A22	99.68	Epileptic encephalopathy, early infantile, 3
SLC2A1	93.34	GLUT1 deficiency syndrome 1, infantile onset, severe
SLC33A1	98.70	Congenital cataracts, hearing loss, and neurodegeneration
SLC35A2	99.98	Congenital disorder of glycosylation, type IIm
SLC35C1	99.69	Congenital disorder of glycosylation, type IIc
SLC45A1	92.61	Intellectual developmental disorder with neuropsychiatric features
SLC46A1	97.75	Folate malabsorption, hereditary
SLC4A4	99.23	Renal tubular acidosis, proximal, with ocular abnormalities
SLC6A1	99.61	Myoclonic-atonic epilepsy
SLC6A17	99.68	Mental retardation, autosomal recessive 48
SLC6A3	99.68	Parkinsonism-dystonia, infantile
SLC6A8	92.97	Cerebral creatine deficiency syndrome 1
SLC7A7	99.67	Lysinuric protein intolerance
SLC9A6	80.47	Mental retardation, X-linked syndromic, Christianson type
SMARCA2	97.63	Nicolaides-Baraitser syndrome
SMARCA4	99.68	Coffin-Siris syndrome 4
SMARCB1	99.47	Coffin-Siris syndrome 3
SMARCE1	98.87	Coffin-Siris syndrome 5
SMC1A	97.41	Cornelia de Lange syndrome 2
SMC3	98.62	Cornelia de Lange syndrome 3
SMOC1	98.99	Microphthalmia with limb anomalies
SMPD1	99.68	Niemann-Pick disease, type A
SMS	83.70	Mental retardation, X-linked, Snyder-Robinson type
SNAP29	98.97	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNIP1	99.59	Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNX14	97.83	Spinocerebellar ataxia, autosomal recessive 20
SOBP	96.13	Mental retardation, anterior maxillary protrusion, and strabismus
SON	99.42	ZTTK syndrome
SOS1	98.22	Noonan syndrome 4
SOS2	98.32	Noonan syndrome 9
SOX10	93.26	Waardenburg syndrome, type 2E, with or without neurologic involvement
SOX11	84.37	Mental retardation, autosomal dominant, 27
SOX2	95.94	Optic nerve hypoplasia and abnormalities of the central nervous system
SOX5	99.56	Lamb-Shaffer syndrome
AFG2A	98.88	Epilepsy, hearing loss, and mental retardation syndrome
SPECC1L	99.49	Opitz GBBB syndrome, type II
SPR	77.10	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPRED1	99.22	Legius syndrome
SPTAN1	99.48	Epileptic encephalopathy, early infantile, 5
SRCAP	99.65	Floating-Harbor syndrome
SRD5A3	96.86	Congenital disorder of glycosylation, type Iq
ST3GAL3	99.66	Mental retardation, autosomal recessive 12
ST3GAL5	85.32	Salt and pepper developmental regression syndrome
STAG1	98.01	Mental retardation, autosomal dominant 47
STAMBP	99.58	Microcephaly-capillary malformation syndrome
STIL	99.24	Microcephaly 7, primary, autosomal recessive
STRA6	99.67	Microphthalmia, syndromic 9
STT3A	99.55	Congenital disorder of glycosylation, type Iw
STT3B	95.54	Congenital disorder of glycosylation, type Ix
STX1B	99.68	Generalized epilepsy with febrile seizures plus, type 9
STXBP1	99.55	Epileptic encephalopathy, early infantile, 4
SUCLG1	98.06	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUOX	99.68	Sulfite oxidase deficiency
SURF1	86.96	Leigh syndrome, due to COX IV deficiency
SYN1	88.25	Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNCRIP	99.45	Lelieveld et al., Nat Neurosci 2016 : ID
SYNE1	99.44	Spinocerebellar ataxia, autosomal recessive 8
SYNGAP1	99.68	Mental retardation, autosomal dominant 5
SYP	93.14	Mental retardation, X-linked 96
SYT14	88.69	Spinocerebellar ataxia, autosomal recessive 11
TAF1	97.05	Mental retardation, X-linked, syndromic 33
TAF2	98.57	Mental retardation, autosomal recessive 40
TBC1D23	97.70	Pontocerebellar hypoplasia, type 11
TBC1D24	99.68	Epileptic encephalopathy, early infantile, 16
TBC1D7	98.94	Macrocephaly/megalencephaly syndrome, autosomal recessive
TBCE	98.41	Hypoparathyroidism-retardation-dysmorphism syndrome
TBCK	98.05	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
TBL1XR1	98.00	Mental retardation, autosomal dominant 41
TCF20	99.69	SchÃ¤fgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie
TCF4	99.65	Pitt-Hopkins syndrome
TCOF1	99.61	Treacher Collins syndrome 1
TCTN1	99.08	Joubert syndrome 13
TCTN2	99.05	Joubert syndrome 24
TCTN3	99.61	Joubert syndrome 18
TECPR2	99.41	Spastic paraplegia 49, autosomal recessive
TECR	99.69	Mental retardation, autosomal recessive 14
TFAP2A	99.48	Branchiooculofacial syndrome
TGIF1	99.69	Holoprosencephaly 4
TH	98.57	Segawa syndrome, recessive
THOC2	91.08	Mental retardation, X-linked 12/35
THOC6	99.66	Beaulieu-Boycott-Innes syndrome
THRA	99.60	Hypothyroidism, congenital, nongoitrous, 6
TIMM8A	99.66	Mohr-Tranebjaerg syndrome
TINF2	99.67	Dyskeratosis congenita, autosomal dominant 3
TMCO1	95.48	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TMEM107	99.69	Orofaciodigital syndrome XVI
TMEM138	99.68	Joubert syndrome 16
TMEM165	87.14	Congenital disorder of glycosylation, type IIk
TMEM216	99.69	Joubert syndrome 2
TMEM231	99.62	Joubert syndrome 20
TMEM237	97.88	Joubert syndrome 14
TMEM67	97.57	Joubert syndrome 6
TMEM70	97.01	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TNK2	99.30	Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID
TPK1	98.92	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
TPP1	99.65	Spinocerebellar ataxia, autosomal recessive 7
TRAPPC11	98.70	Muscular dystrophy, limb-girdle, type 2S
TRAPPC9	99.57	Mental retardation, autosomal recessive 13
TREX1	99.69	Aicardi-Goutieres syndrome 1, dominant and recessive
TRIM32	99.68	Bardet-Biedl syndrome 11
TRIO	97.17	Mental retardation, autosomal dominant 44
TRIP12	99.18	Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
TRMT10A	99.08	Microcephaly, short stature, and impaired glucose metabolism 1
TRMU	94.99	Liver failure, transient infantile
TRPV4	99.64	Spondylometaphyseal dysplasia, Kozlowski type
TSEN2	99.60	Pontocerebellar hypoplasia type 2B
TSEN54	87.28	Pontocerebellar hypoplasia type 2A
TSFM	85.15	Combined oxidative phosphorylation deficiency 3
TSPAN7	98.69	Mental retardation, X-linked 58
SKIC3	99.17	Trichohepatoenteric syndrome 1
TTC8	98.67	Bardet-Biedl syndrome 8
TTI2	99.57	Mental retardation, autosomal recessive 39
TUBA1A	99.69	Lissencephaly 3
TUBA8	97.24	Cortical dysplasia, complex, with other brain malformations 8
TUBB2A	95.11	Cortical dysplasia, complex, with other brain malformations 5
TUBB2B	99.68	Cortical dysplasia, complex, with other brain malformations 7
TUBB3	94.69	Cortical dysplasia, complex, with other brain malformations 1
TUBB4A	98.34	Leukodystrophy, hypomyelinating, 6
TUBG1	99.69	Cortical dysplasia, complex, with other brain malformations 4
TUBGCP6	99.69	Microcephaly and chorioretinopathy, autosomal recessive, 1
TUSC3	99.45	Mental retardation, autosomal recessive 7
TWIST1	59.51	Saethre-Chotzen syndrome
UBE2A	81.32	Mental retardation, X-linked syndromic, Nascimento-type
UBE3A	98.84	Angelman syndrome
UBE3B	99.43	Kaufman oculocerebrofacial syndrome
UBR1	98.99	Johanson-Blizzard syndrome
UNC80	99.46	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
UPF3B	90.82	Mental retardation, X-linked, syndromic 14
UQCRQ	99.62	Mitochondrial complex III deficiency, nuclear type 4
UROC1	99.69	Urocanase deficiency
USP18	99.69	Pseudo-TORCH syndrome 2
USP9X	93.59	Mental retardation, X-linked 99
VLDLR	97.10	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
VPS13B	98.95	Cohen syndrome
VRK1	99.08	Pontocerebellar hypoplasia type 1A
WAC	97.24	Desanto-Shinawi syndrome
WDPCP	98.77	Bardet-Biedl syndrome 15
WDR26	99.46	Skraban-Deardorff syndrome
WDR45	99.94	Neurodegeneration with brain iron accumulation 5
WDR45B	98.84	Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia
WDR62	99.58	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WDR73	99.54	Galloway-Mowat syndrome
WDR81	99.65	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
WWOX	99.63	Epileptic encephalopathy, early infantile, 28
XPA	95.49	Xeroderma pigmentosum, group A
XPC	99.66	Xeroderma pigmentosum, group C
XYLT1	91.40	Desbuquois dysplasia 2
YAP1	95.59	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
YY1	97.61	Gabriele-de Vries syndrome
ZBTB16	99.69	Skeletal defects, genital hypoplasia, and mental retardation
ZBTB18	99.10	Mental retardation, autosomal dominant 22
ZBTB20	99.63	Primrose syndrome
ZBTB24	99.63	Immunodeficiency-centromeric instability-facial anomalies syndrome-2
ZC4H2	97.81	Wieacker-Wolff syndrome
ZDHHC9	98.90	Mental retardation, X-linked syndromic, Raymond type
ZEB2	99.54	Mowat-Wilson syndrome
ZFYVE26	99.53	Spastic paraplegia 15, autosomal recessive
ZIC2	67.20	Holoprosencephaly 5
ZMPSTE24	98.68	Mandibuloacral dysplasia with type B lipodystrophy
ZMYND11	99.50	Mental retardation, autosomal dominant 30
ZNF335	99.63	Microcephaly 10, primary, autosomal recessive
ZNF41	99.90	Shoichet et al., AJHG 2013 : X-Linked Mental Retardation
ZNF711	89.61	Mental retardation, X-linked 97

Lipodystrophy and/or hyperinsulinism (30 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABCC8	100.00	1	NM_000352.6
AGPAT2	100.00	1	NM_006412.4
AKT2	100.00	1	NM_001626.6
ALMS1	100.00	1	NM_001378454.1
BLM	100.00	1	NM_000057.4
BSCL2	100.00	1	NM_001122955.4
CAV1	100.00	1	NM_001753.5
CAVIN1	100.00	1	NM_012232.6
CIDEC	100.00	1	NM_001321142.2
GCK	100.00	1	NM_000162.5
GLUD1	100.00	1	NM_005271.5
HADH	100.00	1	NM_005327.7
INSR	100.00	1	NM_000208.4
KCNJ11	100.00	1	NM_000525.4
LIPE	100.00	1	NM_005357.4
LMNA	100.00	1	NM_170707.4
PCNT	100.00	1	NM_006031.6
PCYT1A	100.00	1	NM_001312673.2
PIK3R1	100.00	1	NM_181523.3
POLD1	100.00	1	NM_002691.4
PPARG	100.00	1	NM_138711.6
SLC16A1	100.00	1	NM_003051.4
WRN	100.00	1	NM_000553.6
ZMPSTE24	100.00	1	NM_005857.5
HNF1A	100.00	1	NM_000545.8
HNF4A	100.00	1	NM_175914.5
MAFA	100.00	1	NM_201589.4
PLAAT3	100.00	1	NM_001128203.2
PPP1R3A	100.00	1	NM_002711.4
UCP2	100.00	1	NM_003355.3

Myopathy (332 genes) - IPG

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AARS1	100.00	1	NM_001605.3
ABHD5	100.00	1	NM_016006.6
ACAD9	100.00	1	NM_014049.5
ACADM	100.00	1	NM_000016.6
ACADVL	100.00	1	NM_000018.4
ACTA1	100.00	1	NM_001100.4
ACVR1	100.00	1	NM_001111067.4
ADSS1	100.00	1	NM_199165.2
AGK	100.00	1	NM_018238.4
AGL	100.00	1	NM_000642.3
AGRN	100.00	1	NM_198576.4
AIFM1	100.00	1	NM_004208.4
ALDOA	100.00	1	NM_184041.4
ALG13	98.00	1	NM_001099922.3
ALG14	100.00	1	NM_144988.4
ALG2	100.00	1	NM_033087.4
ALS2	100.00	1	NM_020919.4
AMPD1	100.00	1	NM_000036.2
ANG	100.00	1	NM_001145.4
ANO5	100.00	1	NM_213599.3
AR	100.00	1	NM_000044.6
ASAH1	100.00	1	NM_177924.5
ASCC1	100.00	1	NM_001198800.3
ATP2A1	100.00	1	NM_004320.6
ATP7A	100.00	1	NM_000052.7
ATXN2	100.00	1	NM_001372574.1
B3GALNT2	100.00	1	NM_152490.5
B4GAT1	100.00	1	NM_006876.3
BAG3	100.00	1	NM_004281.4
BCS1L	100.00	1	NM_001079866.2
BICD2	100.00	1	NM_001003800.2
BIN1	100.00	1	NM_139343.3
BSCL2	100.00	1	NM_001122955.3
BVES	100.00	1	NM_001199563.2
C1QBP	100.00	1	NM_001212.4
C9ORF72	100.00	0	NM_018325.5
CACNA1A	100.00	1	NM_023035.3
CACNA1S	100.00	1	NM_000069.3
CAPN3	100.00	1	NM_000070.3
CASQ1	100.00	1	NM_001231.5
CAV3	100.00	1	NM_033337.3
CAVIN1	100.00	1	NM_012232.6
CCDC78	100.00	1	NM_001031737.3
CFL2	100.00	1	NM_138638.5
CHAT	100.00	1	NM_020549.4
CHCHD10	100.00	1	NM_213720.3
CHKB	100.00	1	NM_005198.5
CHMP2B	100.00	1	NM_014043.4
CHRNA1	100.00	1	NM_000079.4
CHRNB1	100.00	1	NM_000747.3
CHRND	100.00	1	NM_000751.3
CHRNE	100.00	1	NM_000080.4
CHRNG	100.00	1	NM_005199.5
CHST14	100.00	1	NM_130468.4
CLCN1	100.00	1	NM_000083.3
CLN3	100.00	1	NM_001042432.2
CNBP	100.00	1	NM_003418.5
CNTN1	100.00	1	NM_001843.4
COL12A1	100.00	1	NM_004370.6
COL13A1	100.00	1	NM_001130103.2
COL6A1	100.00	1	NM_001848.3
COL6A2	100.00	1	NM_001849.4
COL6A3	100.00	1	NM_004369.4
COLQ	100.00	1	NM_005677.4
COQ9	100.00	1	NM_020312.4
COX10	100.00	1	NM_001303.4
COX15	100.00	1	NM_078470.6
COX20	100.00	1	NM_198076.6
COX6B1	100.00	1	NM_001863.5
COX8A	100.00	1	NM_004074.3
CPT2	100.00	1	NM_000098.3
CRPPA	100.00	1	NM_001101426.4
CRYAB	100.00	1	NM_001289808.2
DAG1	100.00	1	NM_001177634.2
DCTN1	100.00	1	NM_004082.4
DES	100.00	1	NM_001927.4
DGUOK	100.00	1	NM_080916.3
DMD	100.00	1	NM_004006.2
DMPK	100.00	1	NM_004409.5
DNA2	100.00	1	NM_001080449.3
DNAJB2	100.00	1	NM_006736.6
DNAJB6	100.00	1	NM_058246.4
DNM2	100.00	1	NM_001005361.3
DNMT3B	100.00	1	NM_006892.4
DOK7	100.00	1	NM_173660.5
DPAGT1	100.00	1	NM_001382.4
DPM1	99.00	1	NM_001317035.1
DPM2	100.00	1	NM_003863.4
DPM3	100.00	1	NM_153741.2
DYNC1H1	100.00	1	NM_001376.5
DYSF	100.00	1	NM_001130987.2
ECEL1	100.00	1	NM_004826.4
EMD	100.00	1	NM_000117.3
ENO3	100.00	1	NM_053013.4
ERBB3	100.00	1	NM_001982.4
ERBB4	100.00	1	NM_005235.3
ETFA	100.00	1	NM_000126.4
ETFB	100.00	1	NM_001985.3
ETFDH	100.00	1	NM_004453.4
EXOSC3	100.00	1	NM_016042.4
EXOSC8	100.00	1	NM_181503.3
FASTKD2	100.00	1	NM_001136193.2
FBN2	100.00	1	NM_001999.4
FBXL4	100.00	1	NM_001278716.2
FBXO38	100.00	1	NM_205836.3
FDX2	100.00	1	NM_001031734.4
FHL1	100.00	1	NM_001159699.2
FIG4	100.00	1	NM_014845.6
FKRP	100.00	1	NM_024301.5
FKTN	100.00	1	NM_006731.2
FLAD1	100.00	1	NM_025207.5
FLNC	100.00	1	NM_001458.4
FOXRED1	100.00	1	NM_017547.4
FUS	100.00	1	NM_004960.4
FXR1	100.00	1	NM_005087.4
GAA	100.00	1	NM_000152.5
GABRA3	100.00	1	NM_000808.4
GARS1	100.00	1	NM_002047.4
GBE1	100.00	1	NM_000158.4
GFER	100.00	1	NM_005262.3
GFPT1	100.00	1	NM_001244710.2
GLE1	100.00	1	NM_001003722.2
GLI3	100.00	1	NM_000168.6
GMPPB	100.00	1	NM_021971.4
GNE	100.00	1	NM_005476.7
GOLGA2	100.00	1	XM_005251932.1
GYG1	100.00	1	NM_004130.4
GYS1	100.00	1	NM_002103.5
HACD1	100.00	1	NM_014241.4
HADHA	100.00	1	NM_000182.5
HADHB	100.00	1	NM_000183.3
HEXB	100.00	1	NM_000521.4
HNRNPA1	100.00	1	NM_031157.4
HNRNPA2B1	100.00	1	NM_031243.3
HNRNPDL	100.00	1	NM_031372.3
HRAS	100.00	1	NM_005343.4
HSPB3	100.00	1	NM_006308.3
HSPB8	100.00	1	NM_014365.3
HSPG2	100.00	1	NM_005529.7
IBA57	100.00	1	NM_001010867.4
IGHMBP2	100.00	1	NM_002180.3
INPP5K	100.00	1	NM_016532.4
ISCU	100.00	1	NM_213595.3
ITGA7	100.00	1	NM_002206.3
KBTBD13	100.00	1	NM_001101362.2
KCNA1	100.00	1	NM_000217.3
KCNH2	100.00	1	NM_000238.4
KCNJ18	100.00	1	NM_001194958.2
KCNJ2	100.00	1	NM_000891.3
KCNQ1	100.00	1	NM_000218.3
KIF5A	100.00	1	NM_004984.4
KLHL40	100.00	1	NM_152393.4
KLHL41	100.00	1	NM_006063.3
KLHL9	100.00	1	NM_018847.4
KY	100.00	1	NM_178554.6
LAMA2	100.00	1	NM_000426.3
LAMA5	100.00	1	NM_005560.6
LAMB2	100.00	1	NM_002292.4
LAMP2	100.00	1	NM_002294.3
LARGE1	100.00	1	NM_004737.6
LDB3	98.00	1	NM_001171610.2
LDHA	100.00	1	NM_005566.4
LGI4	100.00	1	NM_139284.3
LIMS2	100.00	1	NM_017980.4
LMNA	100.00	1	NM_170707.4
LMOD3	100.00	1	NM_198271.5
LPIN1	100.00	1	NM_001349206.2
LRP4	100.00	1	NM_002334.4
LRPPRC	100.00	1	NM_133259.4
MAP3K20	100.00	1	NM_016653.3
MATR3	100.00	1	NM_018834.6
MCCC1	100.00	1	NM_020166.5
MCCC2	100.00	1	NM_022132.5
MEGF10	100.00	1	NM_001256545.2
MGME1	100.00	1	NM_052865.4
MPV17	100.00	1	NM_002437.5
MSTN	100.00	1	NM_005259.3
MTM1	100.00	1	NM_000252.3
MTMR14	100.00	1	NM_001077525.3
MUSK	100.00	1	NM_005592.4
MYBPC1	100.00	1	NM_002465.4
MYBPC3	100.00	1	NM_000256.3
MYH2	100.00	1	NM_017534.6
MYH3	100.00	1	NM_002470.4
MYH7	100.00	1	NM_000257.4
MYH8	100.00	1	NM_002472.3
MYL1	100.00	1	NM_079420.3
MYMK	100.00	1	NM_001080483.3
MYO18B	100.00	1	NM_032608.7
MYO9A	100.00	1	NM_006901.4
MYOT	100.00	1	NM_006790.3
MYPN	100.00	1	NM_032578.3
NDUFA1	100.00	1	NM_004541.4
NDUFA10	100.00	1	NM_004544.4
NDUFA11	100.00	1	NM_175614.5
NDUFA12	100.00	1	NM_018838.5
NDUFA2	100.00	1	NM_002488.5
NDUFA3	100.00	1	NM_004542.4
NDUFA9	100.00	1	NM_005002.5
NDUFAF1	100.00	1	NM_016013.4
NDUFAF2	100.00	1	NM_174889.5
NDUFAF5	100.00	1	NM_024120.5
NDUFAF6	100.00	1	NM_152416.4
NDUFS1	100.00	1	NM_005006.7
NDUFS2	100.00	1	NM_004550.4
NDUFS3	100.00	1	NM_004551.3
NDUFS4	100.00	1	NM_002495.4
NDUFS7	100.00	1	NM_024407.5
NDUFS8	100.00	1	NM_002496.4
NDUFV1	100.00	1	NM_007103.4
NDUFV2	100.00	1	NM_021074.5
NEB	88.00	1	NM_001271208.2
NEFH	100.00	1	NM_021076.4
NUBPL	100.00	1	NM_025152.3
OPTN	100.00	1	NM_001008212.2
ORAI1	100.00	1	NM_032790.3
PABPN1	100.00	1	NM_004643.3
PET100	100.00	1	NM_001171155.2
PFKM	100.00	1	NM_000289.6
PFN1	100.00	1	NM_005022.4
PGAM2	100.00	1	NM_000290.4
PGK1	100.00	1	NM_000291.4
PGM1	100.00	1	NM_002633.3
PHKA1	100.00	1	NM_002637.4
PHKB	100.00	1	NM_000293.3
PHKG1	100.00	1	NM_001258459.1
PIEZO2	100.00	1	NM_022068.3
PIP5K1C	100.00	1	NM_012398.3
PLEC	100.00	1	NM_201380.4
PLEKHG5	100.00	1	NM_001265592.1
PNPLA2	100.00	1	NM_020376.4
PNPLA8	100.00	1	NM_001256007.3
POGLUT1	100.00	1	NM_152305.3
POLG	100.00	1	NM_001126131.2
POLG2	100.00	1	NM_007215.4
POMGNT1	100.00	1	NM_001243766.1
POMGNT2	100.00	1	NM_032806.6
POMK	100.00	1	NM_032237.5
POMT1	100.00	1	NM_001077365.2
POMT2	100.00	1	NM_013382.5
PREPL	100.00	1	NM_001171613.2
PRKAG2	100.00	1	NM_016203.4
PRPH	100.00	1	NM_006262.4
PUS1	100.00	1	NM_025215.6
PYGM	100.00	1	NM_005609.4
PYROXD1	100.00	1	NM_024854.5
RAPSN	100.00	1	NM_005055.5
RBCK1	100.00	1	NM_031229.4
RBM7	100.00	1	NM_001286045.1
REEP1	100.00	1	NM_001371279.1
RNASEH1	100.00	1	NM_002936.5
RRM2B	100.00	1	NM_015713.5
RXYLT1	100.00	1	NM_014254.3
RYR1	100.00	1	NM_000540.3
SCN4A	100.00	1	NM_000334.4
SCO1	100.00	1	NM_004589.4
SCO2	100.00	1	NM_005138.3
SELENON	90.00	1	NM_020451.3
SETX	100.00	1	NM_015046.7
SGCA	100.00	1	NM_000023.4
SGCB	100.00	1	NM_000232.5
SGCD	100.00	1	XM_017009724.1
SGCG	100.00	1	NM_000231.2
SIGMAR1	100.00	1	NM_005866.4
SIL1	100.00	1	NM_022464.5
SLC18A3	100.00	1	NM_003055.3
SLC22A5	100.00	1	NM_003060.4
SLC25A20	100.00	1	NM_000387.6
SLC25A4	100.00	1	NM_001151.4
SLC52A2	100.00	1	NM_001363118.2
SLC52A3	100.00	1	NM_033409.4
SLC5A7	100.00	1	NM_021815.5
SMCHD1	100.00	1	NM_015295.3
SMN1	6.00	0	NM_000344.3+(exon 1 Ã 7 non couvert)
SNAP25	100.00	1	NM_130811.4
SOD1	100.00	1	NM_000454.5
SPEG	100.00	1	NM_005876.5
SPG11	100.00	1	NM_025137.4
SPG7	100.00	1	NM_003119.4
SPTBN4	100.00	1	NM_020971.3
SQSTM1	100.00	1	NM_003900.5
STAC3	100.00	1	NM_145064.3
STIM1	100.00	1	NM_001277961.1
SUCLA2	100.00	1	NM_003850.2
SUCLG1	100.00	1	NM_003849.4
SURF1	100.00	1	NM_003172.4
SYNE1	100.00	1	NM_182961.4
SYNE2	100.00	1	NM_182914.2
SYT2	100.00	1	NM_177402.5
TACO1	100.00	1	NM_016360.4
TANGO2	100.00	1	NM_152906.7
TARDBP	100.00	1	NM_007375.4
TARS2	100.00	1	NM_025150.5
TAFAZZIN	100.00	1	NM_000116.5
TCAP	100.00	1	NM_003673.4
TIA1	100.00	1	NM_022173.4
TK2	100.00	1	NM_004614.5
TMEM43	100.00	1	NM_024334.3
TNNI2	100.00	1	NM_003282.4
TNNT1	100.00	1	NM_003283.6
TNNT3	100.00	1	NM_006757.4
TNPO3	100.00	1	NM_012470.3
TOP3A	100.00	1	NM_004618.5
TOR1AIP1	100.00	1	NM_001267578.1
TPM2	100.00	1	NM_003289.4
TPM3	100.00	1	NM_152263.4
TRAPPC11	100.00	1	NM_021942.6
TRIM32	100.00	1	NM_012210.3
TRIM54	100.00	1	NM_187841.3
TRIM63	100.00	1	NM_032588.3
TRIP4	100.00	1	NM_016213.5
TRMT5	100.00	1	NM_020810.3
TRPV4	100.00	1	NM_021625.5
TSFM	100.00	1	NM_005726.6
TTN	100.00	1	NM_001267550.2
TUBA4A	100.00	1	NM_006000.3
TWNK	100.00	1	NM_021830.5
TYMP	100.00	1	NM_001257989.1
UBA1	100.00	1	NM_003334.4
UBQLN2	100.00	1	NM_013444.3
VAMP1	100.00	1	NM_014231.5
VAPB	100.00	1	NM_004738.5
VARS1	100.00	1	NM_001167734.1
VCP	100.00	1	NM_007126.5
VMA21	100.00	1	NM_001363810.1
VPS33B	100.00	1	NM_018668.5
VRK1	100.00	1	NM_003384.3
WARS1	100.00	1	NM_004184.4
XK	100.00	1	NM_021083.4
YARS2	100.00	1	NM_001040436.3
ZC4H2	100.00	1	NM_018684.4

Myopathy (genepanel) - UZA

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD5	99.64	1
ACAD9	99.97	1
ACADM	99.64	1
ACADS	100.00	1
ACADVL	99.94	1
ACTA1	99.99	1
ACTN2	99.96	1
ADSS1	99.99	1
AGK	99.98	1
AGL	99.92	1
AGRN	99.83	1
ALDOA	100.00	1
ALG14	99.97	1
ALG2	99.95	1
ANO5	99.96	1
ANXA11	99.88	1
ASCC1	91.38	1
ATP1A2	99.96	1
ATP2A1	99.97	1
B3GALNT2	94.03	1
B4GAT1	99.95	1
BAG3	100.00	1
BIN1	100.00	1
BVES	99.97	1
CACNA1S	99.92	1
CAP2	99.97	1
CAPN3	99.98	1
CASQ1	99.91	1
CAV3	99.85	1
CAVIN1	99.99	1
CFL2	99.81	1
CHAT	99.77	1
CHD7	99.96	1
CHKB	99.89	1
CHRNA1	99.96	1
CHRNB1	99.99	1
CHRND	100.00	1
CHRNE	99.95	1
CHRNG	99.87	1
CLCN1	99.97	1
CNBP	99.97	1
COL12A1	99.95	1
COL13A1	99.56	1
COL25A1	99.96	1
COL6A1	100.00	1
COL6A2	99.96	1
COL6A3	99.99	1
COLQ	99.97	1
COX6A2	98.51	1
CPT2	99.99	1
CRPPA	99.59	1
CRYAB	99.98	1
DAG1	100.00	1
DCST2	99.92	1
DES	100.00	1
DGUOK	99.76	1
DMD	99.41	1
DMPK	99.98	1
DNAJB6	99.91	1
DNM2	99.96	1
DNMT3B	99.98	1
DOK7	99.73	1
DPAGT1	99.96	1
DPM2	100.00	1
DPM3	100.00	1
DYSF	99.99	1
EMD	97.92	1
ENO3	99.98	1
ETFA	99.84	1
ETFDH	99.76	1
FAM111B	99.99	1
FDX2	99.94	1
FHL1	99.92	1
FKRP	99.99	1
FKTN	99.91	1
FLAD1	100.00	1
FLNC	99.99	1
FXR1	99.81	1
GAA	99.99	1
GBE1	99.84	1
GFER	99.96	1
GFPT1	99.90	1
GGPS1	99.89	1
GMPPB	99.95	1
GNE	99.98	1
GYG1	99.97	1
GYS1	99.98	1
HACD1	99.78	1
HADH	99.97	1
HADHA	99.96	1
HADHB	99.97	1
HNRNPA1	100.00	1
HNRNPA2B1	99.95	1
HNRNPDL	99.92	1
INPP5K	99.99	1
ISCU	99.94	1
ITGA7	99.98	1
ITGA9	99.80	1
JAG2	98.50	1
KBTBD13	100.00	1
KCNJ2	100.00	1
KIF21A	99.80	1
KLHL40	100.00	1
KLHL41	99.96	1
KLHL9	100.00	1
KY	98.80	1
LAMA2	99.97	1
LAMB2	99.99	1
LAMP2	98.98	1
LARGE1	99.99	1
LDB3	98.02	1
LDHA	99.77	1
LIMS2	99.65	1
LMNA	99.98	1
LMOD3	99.96	1
LPIN1	99.97	1
LRP4	99.98	1
MAP3K20	99.92	1
MATR3	99.87	1
MB	99.99	1
MEGF10	99.90	1
MICU1	99.98	1
MLIP	99.94	1
MSTO1	98.87	1
MTM1	99.36	1
MUSK	99.97	1
MYBPC1	99.90	1
MYBPC3	99.98	1
MYH14	99.79	1
MYH2	99.97	1
MYH3	99.96	1
MYH7	100.00	1
MYL1	99.93	1
MYL2	99.98	1
MYMX	100.00	1
MYO18B	99.98	1
MYO9A	99.91	1
MYOD1	99.82	1
MYOT	99.98	1
MYPN	99.97	1
NEB	99.77	1
NPL	99.95	1
OPA1	99.87	1
ORAI1	97.73	1
PABPN1	99.67	1
PAX7	99.96	1
PFKM	99.82	1
PGAM2	100.00	1
PGK1	99.71	1
PGM1	99.89	1
PHKA1	99.57	1
PHKB	99.79	1
PHOX2A	96.75	1
PLEC	99.98	1
PNPLA2	99.99	1
PNPLA8	99.81	1
POGLUT1	99.91	1
POLG	99.98	1
POLG2	99.68	1
POMGNT1	99.98	1
POMGNT2	100.00	1
POMK	99.98	1
POMT1	99.91	1
POMT2	99.93	1
POPDC3	99.93	1
PREPL	99.96	1
PRKAG2	99.92	1
PYGM	99.98	1
PYROXD1	99.83	1
RAPSN	99.99	1
RBCK1	99.99	1
RXYLT1	99.53	1
RYR1	99.92	1
SCN4A	99.77	1
SELENON	95.81	1
SGCA	99.99	1
SGCB	99.62	1
SGCD	99.94	1
SGCG	99.87	1
SIL1	99.99	1
SLC18A3	100.00	1
SLC22A5	99.99	1
SLC25A20	99.90	1
SLC25A4	99.96	1
SLC5A7	99.97	1
SMCHD1	99.82	1
SMPX	99.37	1
SPEG	99.97	1
SQSTM1	100.00	1
STAC3	99.94	1
STIM1	99.97	1
SVIL	99.94	1
SYNE1	99.96	1
SYNE2	99.85	1
SYT2	99.89	1
TCAP	100.00	1
TIA1	99.56	1
TK2	99.99	1
TMEM126B	99.68	1
TMEM43	99.98	1
TNNC2	99.95	1
TNNI2	100.00	1
TNNT1	99.82	1
TNNT3	100.00	1
TNPO3	99.95	1
TNXB	99.95	1
TOP3A	99.95	1
TOR1AIP1	99.84	1
TPI1	99.95	1
TPM2	99.93	1
TPM3	99.95	1
TRAPPC11	99.59	1
TRDN	99.03	1
TRIM32	100.00	1
TRIP4	99.91	1
TRMT5	99.83	1
TTN	99.96	1
TUBB3	100.00	1
TWNK	100.00	1
UNC45B	99.93	1
VAMP1	99.70	1
VCP	99.92	1
VMA21	97.04	1
VWA1	91.35	1

Neuromuscular disorders (548 genes) - ULB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	No comment
ABCD1	97.56	No comment
ABHD12	88.30	No comment
ABHD5	99.85	No comment
ACAD9	100.00	No comment
ACADL	98.57	No comment
ACADM	99.87	No comment
ACADS	97.51	No comment
ACADVL	98.04	No comment
ACTA1	99.79	No comment
ACVR1	100.00	No comment
ADAR	100.00	No comment
ADSS1	99.98	No comment
AFG3L2	94.80	No comment
AGK	100.00	No comment
AGL	100.00	No comment
AGRN	96.53	No comment
AIFM1	99.98	No comment
AIMP1	99.97	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.94	No comment
ALDOA	100.00	No comment
ALG13	99.53	No comment
ALG14	100.00	No comment
ALG2	99.83	No comment
ALS2	100.00	No comment
AMPD1	100.00	No comment
AMPD2	99.90	No comment
ANG	100.00	No comment
ANO5	100.00	No comment
ANXA11	99.99	No comment
AP4B1	100.00	No comment
AP4E1	99.99	No comment
AP4M1	100.00	No comment
AP4S1	100.00	No comment
AP5Z1	99.25	No comment
APTX	99.96	No comment
AR	100.00	No comment
ARG1	100.00	No comment
ARHGEF10	99.98	No comment
ARHGEF28	99.05	No comment
ARL6IP1	100.00	No comment
ARSI	99.82	No comment
ASAH1	100.00	No comment
ASCC1	91.30	No comment
ATL1	99.89	No comment
ATL3	99.93	No comment
ATM	100.00	No comment
ATP13A2	98.30	No comment
ATP1A1	100.00	No comment
ATP2A1	100.00	No comment
ATP7A	100.00	No comment
ATXN2	93.25	No comment
AUH	99.24	No comment
B3GALNT2	92.96	No comment
B4GAT1	99.99	No comment
B4GALNT1	99.99	No comment
BAG3	100.00	No comment
BCS1L	100.00	No comment
BICD2	100.00	No comment
BIN1	99.94	No comment
BSCL2	100.00	No comment
BVES	100.00	No comment
TWNK	100.00	No comment
MTRFR	100.00	No comment
C19ORF12	100.00	No comment
C1QBP	99.47	No comment
C9ORF72	99.96	No comment
CACNA1A	99.53	No comment
CACNA1S	100.00	No comment
CAPN1	99.97	No comment
CAPN3	99.99	No comment
CASQ1	100.00	No comment
CAV3	100.00	No comment
CCDC78	100.00	No comment
CCT5	99.92	No comment
CFL2	100.00	No comment
CHAT	99.97	No comment
CHCHD10	99.66	No comment
CHKB	99.75	No comment
CHMP2B	100.00	No comment
CHRNA1	99.99	No comment
CHRNB1	99.95	No comment
CHRND	100.00	No comment
CHRNE	100.00	No comment
CHRNG	99.87	No comment
CHST14	99.50	No comment
CLCN1	100.00	No comment
CLN3	100.00	No comment
CLN8	100.00	No comment
CLTCL1	99.04	No comment
CNBP	100.00	No comment
CNTN1	100.00	No comment
CNTNAP1	100.00	No comment
COL12A1	100.00	No comment
COL13A1	99.52	No comment
COL6A1	99.90	No comment
COL6A2	99.98	No comment
COL6A3	100.00	No comment
COLQ	100.00	No comment
COQ9	100.00	No comment
COX10	100.00	No comment
COX15	99.99	No comment
COX20	100.00	No comment
COX6A1	100.00	No comment
COX6B1	100.00	No comment
COX8A	100.00	No comment
CPT1C	100.00	No comment
CPT2	98.55	No comment
CRYAB	100.00	No comment
CSF1R	99.99	No comment
CTDP1	100.00	No comment
CYP27A1	99.38	No comment
CYP2U1	93.20	No comment
CYP7B1	95.41	No comment
DAG1	100.00	No comment
DARS2	100.00	No comment
DCAF8	100.00	No comment
DCTN1	100.00	No comment
DDHD1	99.58	No comment
DDHD2	100.00	No comment
DES	100.00	No comment
DGAT2	100.00	No comment
DGUOK	100.00	No comment
DHTKD1	99.54	No comment
DMD	99.96	No comment
DMPK	99.91	No comment
DMXL2	100.00	No comment
DNAJB2	100.00	No comment
DNAJB6	91.94	No comment
DNM2	99.84	No comment
DNMT1	99.54	No comment
DOK7	97.44	No comment
DOLK	100.00	No comment
DPAGT1	100.00	No comment
DPM1	100.00	No comment
DPM2	100.00	No comment
DPM3	100.00	No comment
DST	100.00	No comment
DYNC1H1	99.92	No comment
DYSF	99.72	No comment
ECEL1	99.80	No comment
EGR2	100.00	No comment
ELOVL4	100.00	No comment
EMD	98.97	No comment
ENO3	100.00	No comment
ENTPD1	100.00	No comment
ERBB3	100.00	No comment
ERBB4	100.00	No comment
ERCC2	98.91	No comment
ERLIN1	100.00	No comment
ERLIN2	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
EXOSC3	100.00	No comment
EXOSC8	100.00	No comment
FA2H	95.71	No comment
FAM111B	100.00	No comment
HYCC1	100.00	No comment
RETREG1	93.72	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FBLN5	100.00	No comment
FBN2	100.00	No comment
FBXL4	100.00	No comment
FBXO38	100.00	No comment
FBXO7	99.78	No comment
FDX2	100.00	No comment
FGD4	99.98	No comment
CFH	100.00	No comment
FIG4	100.00	No comment
FKRP	100.00	No comment
FKTN	100.00	No comment
FLAD1	100.00	No comment
FLNC	100.00	No comment
FLRT1	100.00	No comment
FLVCR1	100.00	No comment
FOXRED1	100.00	No comment
FUS	100.00	No comment
FXN	94.27	No comment
GAA	100.00	No comment
GABRA3	99.59	No comment
GAD1	100.00	No comment
GALC	98.98	No comment
GAN	98.52	No comment
GARS1	97.89	No comment
GART	99.99	No comment
GBA1	100.00	No comment
GBA2	100.00	No comment
GBE1	100.00	No comment
GCH1	99.71	No comment
GDAP1	100.00	No comment
GFAP	100.00	No comment
GFER	99.09	No comment
GFPT1	99.94	No comment
GGPS1	100.00	No comment
GJB1	100.00	No comment
GJB3	100.00	No comment
GJC2	96.72	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLE1	100.00	No comment
GLI3	100.00	No comment
GLTP	100.00	No comment
GMPPB	100.00	No comment
GNB4	100.00	No comment
GNE	100.00	No comment
GOLGA2	95.41	No comment
GOSR2	100.00	No comment
GSN	97.80	No comment
GYG1	94.40	No comment
GYS1	100.00	No comment
HADHA	100.00	No comment
HADHB	100.00	No comment
HARS1	99.73	No comment
HEPACAM	99.85	No comment
HEXA	100.00	No comment
HEXB	99.19	No comment
HINT1	100.00	No comment
HK1	100.00	No comment
HNRNPA1	97.19	No comment
HNRNPA2B1	100.00	No comment
HNRNPDL	99.98	No comment
HOXD10	100.00	No comment
HRAS	100.00	No comment
HSD17B4	100.00	No comment
HSPB1	100.00	No comment
HSPB3	100.00	No comment
HSPB8	100.00	No comment
HSPD1	95.18	No comment
HSPG2	99.19	No comment
IBA57	92.01	No comment
IFIH1	100.00	No comment
IFRD1	98.86	No comment
IGHMBP2	99.38	No comment
ELP1	100.00	No comment
INF2	99.92	No comment
INPP5K	99.31	No comment
ISCU	98.41	No comment
CRPPA	95.50	No comment
ITGA7	100.00	No comment
KARS1	100.00	No comment
KBTBD13	99.16	No comment
KCNA1	100.00	No comment
KCNE1	100.00	No comment
KCNE2	100.00	No comment
KCNE3	100.00	No comment
KCNH2	98.15	No comment
KCNJ12	100.00	No comment
KCNJ2	100.00	No comment
KCNQ1	100.00	No comment
WASHC5	100.00	No comment
KIF1A	98.74	No comment
KIF1B	99.84	No comment
KIF1C	100.00	No comment
KIF21A	98.54	No comment
KIF5A	100.00	No comment
KLC4	99.99	No comment
KLHL40	100.00	No comment
KLHL41	100.00	No comment
KLHL9	100.00	No comment
KY	100.00	No comment
L1CAM	99.98	No comment
LAMA2	100.00	No comment
LAMA5	98.39	No comment
LAMB2	100.00	No comment
LAMP2	99.60	No comment
LARGE1	100.00	No comment
LDB3	100.00	No comment
LDHA	99.42	No comment
LGI4	100.00	No comment
LIMS2	91.30	No comment
LITAF	100.00	No comment
LMNA	99.28	No comment
LMOD3	100.00	No comment
LPIN1	99.97	No comment
CORIN	99.01	No comment
LRPPRC	98.80	No comment
LRSAM1	99.33	No comment
MARS1	100.00	No comment
MATR3	100.00	No comment
MB	100.00	No comment
MED25	100.00	No comment
MEGF10	99.99	No comment
MFN2	100.00	No comment
MLC1	98.57	No comment
MAP3K20	100.00	No comment
MARS2	100.00	No comment
MME	100.00	No comment
MORC2	100.00	No comment
MPV17	100.00	No comment
MPZ	99.80	No comment
MSTN	100.00	No comment
MTM1	99.91	No comment
MTMR14	99.92	No comment
MTMR2	99.55	No comment
MTPAP	99.98	No comment
MUSK	100.00	No comment
MYBPC1	100.00	No comment
MYBPC3	100.00	No comment
MYH7B	99.85	No comment
MYH2	100.00	No comment
MYH3	100.00	No comment
MYH4	100.00	No comment
MYH7	100.00	No comment
MYH8	100.00	No comment
MYL1	100.00	No comment
MYO18B	99.80	No comment
MYO9A	99.74	No comment
MYOT	100.00	No comment
MYPN	99.97	No comment
NAGLU	96.69	No comment
NDRG1	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	96.45	No comment
NDUFA11	100.00	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA3	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF5	99.96	No comment
NDUFAF6	95.61	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	99.96	No comment
NDUFS7	93.34	No comment
NDUFS8	100.00	No comment
NDUFV1	99.62	No comment
NDUFV2	100.00	No comment
NEB	100.00	No comment
NEFH	81.41	No comment
NEFL	100.00	No comment
NEK1	99.98	No comment
NGF	100.00	No comment
NIPA1	92.99	No comment
NT5C2	100.00	No comment
NTRK1	98.36	No comment
NUBPL	99.92	No comment
MED12	99.98	No comment
OPA3	100.00	No comment
OPTN	100.00	No comment
ORAI1	92.14	No comment
P4HA1	100.00	No comment
PABPN1	100.00	No comment
PANK2	100.00	No comment
PDHA1	92.64	No comment
PDK3	97.80	No comment
PDYN	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX7	95.60	No comment
PFKM	100.00	No comment
PFN1	100.00	No comment
PGAM2	99.97	No comment
PGAP1	100.00	No comment
PGK1	99.88	No comment
PGM1	100.00	No comment
PHKA1	99.99	No comment
PHKB	99.97	No comment
PHOX2A	96.24	No comment
PHYH	99.81	No comment
PIEZO2	100.00	No comment
PIP5K1C	94.98	No comment
PLA2G6	100.00	No comment
PLEC	99.26	No comment
PLEKHG5	100.00	No comment
PLP1	100.00	No comment
PMP2	100.00	No comment
PMP22	100.00	No comment
PNKP	99.84	No comment
PNPLA2	98.21	No comment
PNPLA6	99.95	No comment
PNPLA8	100.00	No comment
POGLUT1	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMGNT1	100.00	No comment
POMGNT2	100.00	No comment
POMK	100.00	No comment
POMT1	100.00	No comment
POMT2	99.53	No comment
PPP2R2B	100.00	No comment
PRDM12	81.28	No comment
PREPL	99.98	No comment
PRKAG2	95.75	No comment
PRNP	99.92	No comment
PRPH	99.62	No comment
PRPS1	99.91	No comment
PRUNE1	100.00	No comment
PRX	99.89	No comment
PSEN1	100.00	No comment
HACD1	94.60	No comment
CAVIN1	100.00	No comment
PTRH2	99.91	No comment
PUS1	100.00	No comment
PYGM	100.00	No comment
PYROXD1	99.99	No comment
RAB3GAP2	100.00	No comment
RAB7A	100.00	No comment
RAPSN	100.00	No comment
RBCK1	99.76	No comment
RBM7	100.00	No comment
REEP1	100.00	No comment
REEP2	97.04	No comment
RNASEH2B	94.58	No comment
RNASET2	100.00	No comment
RRM2B	100.00	No comment
RTN2	99.44	No comment
RYR1	99.39	No comment
RYR3	100.00	No comment
SACS	99.95	No comment
SBF1	98.38	No comment
SBF2	99.92	No comment
SCN10A	100.00	No comment
SCN11A	99.98	No comment
SCN4A	100.00	No comment
SCN5A	100.00	No comment
SCN9A	99.99	No comment
SCO1	100.00	No comment
SCO2	93.85	No comment
SELENON	84.10	No comment
SEPTIN9	99.38	No comment
SETX	100.00	No comment
SGCA	100.00	No comment
SGCB	91.50	No comment
SGCD	100.00	No comment
SGCE	93.30	No comment
SGCG	100.00	No comment
SGPL1	100.00	No comment
SH3TC2	100.00	No comment
SIGMAR1	92.51	No comment
SIL1	99.95	No comment
SLC12A6	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	99.97	No comment
SLC18A3	100.00	No comment
SLC22A5	100.00	No comment
SLC25A15	100.00	No comment
SLC25A20	100.00	No comment
SLC25A4	99.81	No comment
SLC25A42	99.60	No comment
SLC25A46	100.00	No comment
SLC2A1	100.00	No comment
SLC33A1	100.00	No comment
SLC52A2	100.00	No comment
SLC52A3	99.86	No comment
SLC5A7	100.00	No comment
SMCHD1	100.00	No comment
SMN1	100.00	No comment
SNAP25	100.00	No comment
SOD1	100.00	No comment
SOX10	95.36	No comment
SPAST	99.83	No comment
SPEG	98.78	No comment
SPG11	100.00	No comment
SPART	100.00	No comment
SPG21	100.00	No comment
SPG7	95.78	No comment
SPR	99.98	No comment
SPTBN4	98.07	No comment
SPTLC1	99.27	No comment
SPTLC2	96.43	No comment
SQSTM1	94.05	No comment
SRPK3	98.13	No comment
STAC3	100.00	No comment
STIM1	100.00	No comment
SUCLA2	99.86	No comment
SUCLG1	93.27	No comment
SUN1	100.00	No comment
SURF1	100.00	No comment
SYNE1	100.00	No comment
SYNE2	100.00	No comment
SYT2	99.96	No comment
TACO1	99.66	No comment
TANGO2	99.94	No comment
TARDBP	100.00	No comment
TARS2	100.00	No comment
WWTR1	97.30	No comment
TBCE	100.00	No comment
TBK1	99.99	No comment
TCAP	100.00	No comment
TDP1	100.00	No comment
TECPR2	99.92	No comment
TFG	99.98	No comment
TGM6	100.00	No comment
TH	98.79	No comment
TIA1	100.00	No comment
TK2	100.00	No comment
TMEM43	100.00	No comment
RXYLT1	100.00	No comment
TMEM65	90.50	No comment
MYMK	100.00	No comment
TNNI2	100.00	No comment
TNNT1	94.05	No comment
TNNT3	100.00	No comment
TNPO3	100.00	No comment
TOR1A	99.70	No comment
TOR1AIP1	100.00	No comment
TPI1	99.90	No comment
TPM2	100.00	No comment
TPM3	98.74	No comment
TRAPPC11	99.97	No comment
TRIM2	100.00	No comment
TRIM32	100.00	No comment
TRIM54	96.63	No comment
TRIM63	100.00	No comment
TRIP4	100.00	No comment
TRMT5	100.00	No comment
TRPV4	100.00	No comment
TSFM	86.80	No comment
TTBK2	100.00	No comment
TTN	100.00	No comment
TTR	100.00	No comment
TUBA4A	100.00	No comment
TUBB3	99.01	No comment
TUBB4A	100.00	No comment
TYMP	100.00	No comment
UBA1	100.00	No comment
UBQLN2	99.30	No comment
UNC13A	99.74	No comment
USP8	100.00	No comment
VAMP1	100.00	No comment
VAPB	99.77	No comment
VARS2	100.00	No comment
VCP	97.10	No comment
VMA21	77.99	No comment
VPS33B	100.00	No comment
VPS37A	99.28	No comment
VRK1	100.00	No comment
WARS1	100.00	No comment
WDR45	100.00	No comment
WDR48	100.00	No comment
WNK1	100.00	No comment
XK	99.44	No comment
YARS1	100.00	No comment
YARS2	100.00	No comment
ZC4H2	100.00	No comment
ZFHX2	100.00	No comment
ZFR	100.00	No comment
ZFYVE26	100.00	No comment
ZFYVE27	100.00	No comment

Neuromuscular disorders (232 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
NEB	88.70	NM_001271208.1
SELENON	92.30	NM_020451.2
TSEN54	97.70	NM_207346.2
DOK7	97.90	NM_173660.4
ORAI1	97.90	NM_032790.3
CRPPA	98.60	NM_001101426.3
PGAM2	98.80	NM_000290.3
AGRN	99.00	NM_198576.3
HSPB1	99.00	NM_001540.4
POMT2	99.00	NM_013382.5
CACNA1H	99.10	NM_021098.2
RYR1	99.10	NM_000540.2
SPTBN4	99.30	NM_020971.2
TNNT1	99.50	NM_003283.5
HSPG2	99.50	NM_005529.6
CAPN3	99.60	NM_000070.2
GMPPB	99.60	NM_013334.3
ACADVL	99.60	NM_000018.3
LAMA5	99.60	NM_005560.4
B3GALNT2	99.70	NM_152490.4
SCN4A	99.70	NM_000334.4
ISCU	99.70	NM_213595.3
MATR3	99.70	NM_199189.2
SLC16A1	99.80	NM_003051.3
COL6A1	99.80	NM_001848.2
CHD8	99.80	NM_001170629.1
RAPSN	99.80	NM_005055.4
CACNA1A	99.80	NM_001127221.1
MYH7B	99.80	NM_024729.3
DCST2	99.80	NM_144622.2
CHRNE	99.80	NM_000080.3
SGCG	99.90	NM_000231.2
DYSF	99.90	NM_003494.3
MYL2	99.90	NM_000432.3
CHRNA1	99.90	NM_000079.3
ECEL1	99.90	NM_004826.3
PNPLA2	99.90	NM_020376.3
FXR1	99.90	NM_005087.3
TTN	99.90	NM_133378.4
PNPLA8	99.90	NM_015723.4
ATP2A1	99.90	NM_173201.3
COL6A2	99.90	NM_001849.3
MYBPC3	99.90	NM_000256.3
VCP	99.90	NM_007126.4
TRDN	99.90	NM_006073.3
GYS1	99.90	NM_002103.4
ALG13	99.90	NM_001099922.2
MYO18B	99.90	NM_032608.6
TK2	99.90	NM_004614.4
PHKB	99.90	NM_000293.2
SYT2	99.90	NM_177402.4
LDHA	99.90	NM_005566.3
LMNA	99.90	NM_170707.3
CFL2	99.90	NM_021914.7
TIA1	100.00	NM_022173.3
MYF6	100.00	NM_002469.2
KCNJ18	100.00	NM_001194958.2
DPM1	100.00	NM_003859.2
HNRNPDL	100.00	NM_031372.3
TPM2	100.00	NM_003289.3
CACNA1S	100.00	NM_000069.2
FLNC	100.00	NM_001458.4
CHRNB1	100.00	NM_000747.2
CCDC78	100.00	NM_001031737.2
ETFA	100.00	NM_000126.3
DNAJB6	100.00	NM_058246.3
DMPK	100.00	NM_001081563.2
CORIN	100.00	NM_002334.3
HACD1	100.00	NM_014241.3
EMD	100.00	NM_000117.2
TRIP4	100.00	NM_016213.4
MYL1	100.00	NM_079420.2
ETFDH	100.00	NM_004453.3
FKRP	100.00	NM_024301.4
DNA2	100.00	NM_001080449.2
PLEC	100.00	NM_000445.4
PABPN1	100.00	NM_004643.3
SPEG	100.00	NM_005876.4
ITGA7	100.00	NM_002206.2
POMT1	100.00	NM_007171.3
GFPT1	100.00	NM_002056.3
SYNE1	100.00	NM_033071.3
LPIN1	100.00	NM_145693.3
ENO3	100.00	NM_053013.3
GOLGA2	100.00	NM_004486.4
CHKB	100.00	NM_005198.4
AMPD1	100.00	NM_000036.2
ACTA1	100.00	NM_001100.3
ACVR1	100.00	NM_001105.4
HADHB	100.00	NM_000183.2
KCNA1	100.00	NM_000217.2
ANO5	100.00	NM_213599.2
INPP5K	100.00	NM_016532.3
SMCHD1	100.00	NM_015295.2
ADSS1	100.00	NM_199165.2
TRIM63	100.00	NM_032588.3
COL13A1	100.00	NM_001130103.1
TOP3A	100.00	NM_004618.4
COL12A1	100.00	NM_004370.5
MYPN	100.00	NM_032578.3
SYNE2	100.00	NM_182914.2
ACTN2	100.00	NM_001103.3
PREPL	100.00	NM_006036.4
MYH3	100.00	NM_002470.3
SGCB	100.00	NM_000232.4
PHKA1	100.00	NM_002637.3
CLCN1	100.00	NM_000083.2
KBTBD13	100.00	NM_001101362.2
CHAT	100.00	NM_020549.4
AGL	100.00	NM_000642.2
MUSK	100.00	NM_005592.3
CASQ1	100.00	NM_001231.4
ACADS	100.00	NM_000017.3
PYGM	100.00	NM_005609.3
GAA	100.00	NM_000152.4
TRAPPC11	100.00	NM_021942.5
MYO9A	100.00	NM_006901.3
COL6A3	100.00	NM_004369.3
DMD	100.00	NM_004006.2
MYH7	100.00	NM_000257.3
MYBPC1	100.00	NM_002465.3
RYR3	100.00	NM_001036.4
ABHD5	100.00	NM_016006.5
ACAD9	100.00	NM_014049.4
ACADL	100.00	NM_001608.3
ACADM	100.00	NM_000016.5
ALDOA	100.00	NM_000034.3
ALG14	100.00	NM_144988.3
ALG2	100.00	NM_033087.3
ATP1A2	100.00	NM_000702.3
B4GAT1	100.00	NM_006876.2
BAG3	100.00	NM_004281.3
BIN1	100.00	NM_139343.2
BVES	100.00	NM_007073.4
CAV3	100.00	NM_033337.2
CAVIN1	100.00	NM_012232.5
CHRND	100.00	NM_000751.2
CHRNG	100.00	NM_005199.4
CNTN1	100.00	NM_001843.3
COLQ	100.00	NM_005677.3
CPT2	100.00	NM_000098.2
CRYAB	100.00	NM_001885.2
DAG1	100.00	NM_004393.5
DES	100.00	NM_001927.3
DNM2	100.00	NM_001005360.2
DOLK	100.00	NM_014908.3
DPAGT1	100.00	NM_001382.3
DPM2	100.00	NM_003863.3
DPM3	100.00	NM_153741.1
ETFB	100.00	NM_001985.2
EXOSC3	100.00	NM_016042.3
CFH	100.00	NM_001449.4
FKBP14	100.00	NM_017946.3
FKTN	100.00	NM_001079802.1
FLAD1	100.00	NM_025207.4
GBE1	100.00	NM_000158.3
GGPS1	100.00	NM_001037277.1
GNE	100.00	NM_001128227.2
GYG1	100.00	NM_004130.3
HADH	100.00	NM_005327.4
HADHA	100.00	NM_000182.4
HINT1	100.00	NM_005340.6
HNRNPA1	100.00	NM_031157.3
HNRNPA2B1	100.00	NM_031243.2
HRAS	100.00	NM_005343.3
HSPB8	100.00	NM_014365.2
KCNE3	100.00	NM_005472.4
KCNJ2	100.00	NM_000891.2
KLHL40	100.00	NM_152393.3
KLHL41	100.00	NM_006063.2
KLHL9	100.00	NM_018847.3
KY	100.00	NM_178554.5
LAMA2	100.00	NM_000426.3
LAMB2	100.00	NM_002292.3
LAMP2	100.00	NM_002294.2
LARGE1	100.00	NM_004737.6
LDB3	100.00	NM_001080116.1
LIMS2	100.00	NM_001136037.2
LMOD3	100.00	NM_198271.4
MAP3K20	100.00	NM_016653.2
MB	100.00	NM_005368.2
MEGF10	100.00	NM_032446.2
MSTN	100.00	NM_005259.2
MTM1	100.00	NM_000252.2
MTMR14	100.00	NM_022485.4
MYH2	100.00	NM_017534.5
MYH8	100.00	NM_002472.2
MYMK	100.00	NM_001080483.2
MYOT	100.00	NM_006790.2
MED12	100.00	NM_015560.2
P4HA1	100.00	NM_001017962.2
PAX7	100.00	NM_002584.2
PDHA1	100.00	NM_000284.3
PFKM	100.00	NM_000289.5
PGK1	100.00	NM_000291.3
PGM1	100.00	NM_002633.2
POGLUT1	100.00	NM_152305.2
POLG	100.00	NM_002693.2
POLG2	100.00	NM_007215.3
POMGNT1	100.00	NM_017739.3
POMGNT2	100.00	NM_032806.5
POMK	100.00	NM_032237.4
POPDC3	100.00	NM_022361.4
PRKAG2	100.00	NM_016203.3
PYROXD1	100.00	NM_024854.4
RBCK1	100.00	NM_031229.3
RXYLT1	100.00	NM_014254.2
SBDS	100.00	NM_016038.3
SGCA	100.00	NM_000023.3
SGCD	100.00	NM_000337.5
SIL1	100.00	NM_022464.4
SLC18A3	100.00	NM_003055.2
SLC22A5	100.00	NM_003060.3
SLC25A20	100.00	NM_000387.5
SLC5A7	100.00	NM_021815.4
SNAP25	100.00	NM_130811.3
SQSTM1	100.00	NM_003900.4
STAC3	100.00	NM_145064.2
STIM1	100.00	NM_003156.3
WWTR1	100.00	NM_000116.4
TCAP	100.00	NM_003673.3
TMEM126B	100.00	NM_018480.5
TMEM43	100.00	NM_024334.2
TNNI2	100.00	NM_003282.3
TNNT3	100.00	NM_006757.3
TNPO3	100.00	NM_012470.3
TOR1AIP1	100.00	NM_001267578.1
TPM3	100.00	NM_152263.3
TRIM32	100.00	NM_012210.3
UNC45B	100.00	NM_173167.3
VAMP1	100.00	NM_014231.4
VMA21	100.00	NM_001017980.3

Neuromuscular disorders - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABHD5	99.98	1
ACAD9	100.00	1
ACADL	99.11	1
ACADM	96.14	1
ACADS	99.99	1
ACADVL	100.00	1
ACTA1	99.99	1
ACTN2	99.99	1
ACVR1	99.94	1
ADCY6	99.98	1
ADGRG6	99.91	1
ADSS1	99.99	1
AGL	97.67	1
AGRN	99.99	1
ALDOA	100.00	1
ALG13	99.44	1
ALG14	99.34	1
ALG2	100.00	1
AMPD1	98.94	1
ANO5	99.85	1
APOO	99.69	1
ASAH1	99.90	1
ASCC1	90.99	1
ASPH	99.92	1
ATP2A1	99.83	1
B3GALNT2	92.79	1
B4GAT1	100.00	1
BAG3	100.00	1
BET1	99.38	1
BIN1	99.98	1
BSCL2	99.99	1
BVES	99.83	1
CACNA1H	100.00	1
CACNA1S	99.96	1
CAPN3	99.99	1
CASQ1	99.62	1
CAV3	100.00	1
CAVIN1	100.00	1
CCDC78	100.00	1
CFL2	99.67	1
CHAT	99.74	1
CHCHD10	100.00	1
CHKB	100.00	1
CHRNA1	99.82	1
CHRNB1	99.99	1
CHRND	100.00	1
CHRNE	100.00	1
CHRNG	100.00	1
CLCN1	100.00	1
CLN3	99.92	1
CLPP	99.99	1
CNTN1	99.35	1
COL12A1	99.85	1
COL13A1	99.95	1
COL4A1	99.99	1
COL6A1	99.99	1
COL6A2	100.00	1
COL6A3	99.99	1
COL9A3	99.99	1
COLQ	99.98	1
CPT2	99.65	1
CRPPA	99.98	1
CRYAB	100.00	1
DAG1	100.00	1
DES	100.00	1
DGUOK	99.93	1
DHX16	99.98	1
DMD	99.76	1
DMPK	99.93	1
DNAJB6	99.97	1
DNM2	99.99	1
DNMT3B	99.98	1
DOK7	99.97	1
DOLK	100.00	1
DPAGT1	100.00	1
DPM1	90.68	1
DPM2	100.00	1
DPM3	99.98	1
DYSF	99.95	1
ECEL1	100.00	1
EMD	99.93	1
ENO3	100.00	1
EPG5	99.95	1
ETFA	99.88	1
ETFB	100.00	1
ETFDH	99.82	1
FAM111B	99.98	1
FDX2	99.99	1
CFH	99.97	1
FKBP14	99.97	1
FKRP	100.00	1
FKTN	99.94	1
FLAD1	99.98	1
FLNC	99.99	1
FXR1	99.82	1
GAA	100.00	1
GBE1	99.73	1
GFER	100.00	1
GFPT1	99.79	1
GGPS1	99.95	1
GLDN	99.98	1
GLE1	99.99	1
GMPPB	100.00	1
GNE	99.99	1
GOLGA2	100.00	1
GOSR2	98.92	1
GYG1	99.85	1
GYS1	99.98	1
HACD1	99.98	1
HADHA	99.98	1
HADHB	99.82	1
HEXB	99.91	1
HNRNPA1	62.92	1
HNRNPA2B1	99.90	1
HNRNPDL	99.98	1
HRAS	100.00	1
HSPB1	99.97	1
HSPB3	99.97	1
HSPB8	100.00	1
HSPG2	99.87	1
HTRA2	99.99	1
INPP5K	99.94	1
ISCU	99.74	1
ITGA7	99.87	1
KBTBD13	100.00	1
KLHL40	99.96	1
KLHL41	99.96	1
KLHL9	100.00	1
KY	99.97	1
LAMA2	99.95	1
LAMA5	99.99	1
LAMB2	99.99	1
LAMP2	98.95	1
LARGE1	100.00	1
LARS2	99.96	1
LAS1L	99.97	1
LDB3	99.91	1
LDHA	99.94	1
LGI4	99.98	1
LIMS2	99.97	1
LMNA	99.96	1
LMOD3	99.91	1
LOXL4	99.92	1
LPIN1	99.96	1
LRIF1	99.82	1
CORIN	99.89	1
MAP3K20	99.84	1
MB	99.99	1
MCOLN1	100.00	1
MEGF10	99.91	1
MET	99.97	1
MICU1	99.56	1
MPDU1	99.97	1
MRPS25	99.97	1
MSTN	99.96	1
MSTO1	76.34	1
MTM1	99.76	1
MTMR14	99.99	1
MUSK	99.93	1
MYBPC1	99.77	1
MYBPC3	99.98	1
MYF5	99.99	1
MYH7B	99.98	1
MYH2	99.98	1
MYH3	99.99	1
MYH7	99.99	1
MYH8	100.00	1
MYL1	99.75	1
MYL2	99.99	1
MYMK	99.88	1
MYO18B	99.98	1
MYO9A	99.93	1
MYOT	99.93	1
MYPN	99.88	1
NEB	87.33	1
NEFL	100.00	1
ORAI1	99.63	1
PABPN1	99.99	1
PAX7	99.83	1
PEX6	99.99	1
PFKM	99.57	1
PGAM2	100.00	1
PGK1	99.93	1
PGM1	96.77	1
PHKA1	99.84	1
PHKB	99.69	1
PIEZO2	98.45	1
PLEC	100.00	1
PNPLA2	100.00	1
PNPLA8	99.92	1
POGLUT1	99.99	1
POLG	100.00	1
POLG2	99.51	1
POMGNT1	99.69	1
POMGNT2	100.00	1
POMK	100.00	1
POMT1	99.96	1
POMT2	99.98	1
POPDC3	99.96	1
PREPL	99.63	1
PRKAG2	99.96	1
PTRH2	99.99	1
PUS1	100.00	1
PYGM	99.96	1
PYROXD1	99.77	1
RAPSN	99.97	1
RBCK1	100.00	1
RRM2B	99.97	1
RXYLT1	99.48	1
RYR1	99.97	1
RYR3	99.98	1
SCN4A	99.98	1
SELENON	93.61	1
SGCA	100.00	1
SGCB	99.95	1
SGCD	100.00	1
SGCG	99.99	1
SIL1	99.95	1
SLC16A1	99.26	1
SLC18A3	99.99	1
SLC22A5	99.99	1
SLC25A1	99.93	1
SLC25A20	100.00	1
SLC25A4	100.00	1
SLC25A42	99.99	1
SLC5A7	99.57	1
SMCHD1	99.83	1
SMPX	99.80	1
SNAP25	99.89	1
SPEG	99.99	1
SPTBN4	99.91	1
SQSTM1	100.00	1
STAC3	99.91	1
STIM1	99.99	1
SUCLA2	99.96	1
SVIL	99.98	1
SYNE1	99.95	1
SYNE2	99.95	1
SYT2	99.93	1
TARDBP	100.00	1
TCAP	100.00	1
TFAM	99.24	1
TIA1	99.72	1
TIMM22	100.00	1
TK2	99.96	1
TMEM43	99.96	1
TMEM65	99.93	1
TNNC2	99.99	1
TNNI2	99.99	1
TNNT1	99.82	1
TNNT3	100.00	1
TNPO3	99.96	1
TNXB	90.86	1
TOR1AIP1	98.45	1
TPM2	100.00	1
TPM3	83.21	1
TRAPPC11	99.93	1
TRIM32	100.00	1
TRIM54	89.88	1
TRIP4	99.97	1
TSEN54	100.00	1
TSFM	100.00	1
TTN	99.15	1
TYMP	99.87	1
UNC45B	100.00	1
VAMP1	100.00	1
VCP	99.99	1
VMA21	99.90	1
VPS33B	99.95	1
YARS2	99.93	1
ZBTB42	100.00	1
ZC4H2	99.98	1