Adult Krabbe disease | Belgian Genetic Tests database

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Name:	Adult Krabbe disease
ORPHAcode:	206448
XREF(s):	Orphanet ICD-10
Analyte(s):	GALC
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

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Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AAAS	100.00	No comment
AARS1	100.00	No comment
AASS	100.00	No comment
ABAT	100.00	No comment
ABCB1	100.00	No comment
ABCC8	99.81	No comment
ABCD1	99.93	No comment
ACADM	99.94	No comment
ACADS	99.48	No comment
ACADSB	100.00	No comment
ACO2	100.00	No comment
ACOX1	100.00	No comment
ACSF3	100.00	No comment
ACTB	100.00	No comment
ACTG1	100.00	No comment
ACVR1	100.00	No comment
ACY1	100.00	No comment
ADAR	100.00	No comment
ADGRG1	100.00	No comment
ADGRV1	100.00	No comment
ADK	100.00	No comment
ADRA2B	100.00	No comment
ADSL	100.00	No comment
AFG3L2	95.05	No comment
AGA	100.00	No comment
AGTR2	100.00	No comment
AHI1	100.00	No comment
AIFM1	100.00	No comment
AIMP1	100.00	No comment
AKT2	100.00	No comment
AKT3	100.00	No comment
ALDH18A1	100.00	No comment
ALDH3A2	99.95	No comment
ALDH4A1	97.15	No comment
ALDH5A1	83.59	No comment
ALDH7A1	100.00	No comment
ALG1	92.65	No comment
ALG11	100.00	No comment
ALG12	100.00	No comment
ALG13	99.96	No comment
ALG2	99.94	No comment
ALG3	99.22	No comment
ALG6	100.00	No comment
ALG8	95.91	No comment
ALG9	98.65	No comment
ALMS1	100.00	No comment
AMACR	99.83	No comment
AMER1	100.00	No comment
AMT	99.94	No comment
ANKH	100.00	No comment
ANKRD11	100.00	No comment
AP3B2	99.73	No comment
AP4E1	100.00	No comment
APTX	100.00	No comment
AR	99.29	No comment
ARFGEF2	100.00	No comment
ARG1	100.00	No comment
ARHGEF15	100.00	No comment
ARHGEF9	100.00	No comment
ARID1A	94.64	No comment
ARID1B	92.99	No comment
ARL13B	100.00	No comment
ARSA	100.00	No comment
SLURP1	85.73	No comment
ARX	78.98	No comment
ASAH1	99.94	No comment
ASL	100.00	No comment
ASNS	100.00	No comment
ASPA	100.00	No comment
ASPM	100.00	No comment
ASS1	99.87	No comment
ASXL1	99.91	No comment
ATIC	99.06	No comment
ATN1	100.00	No comment
ATP1A2	100.00	No comment
ATP1A3	100.00	No comment
ATP2A2	100.00	No comment
ATP5F1A	100.00	No comment
ATP6AP2	99.95	No comment
ATP6V0A2	100.00	No comment
ATP7A	100.00	No comment
ATPAF2	100.00	No comment
ANTXR1	100.00	No comment
ATRX	100.00	No comment
ATXN10	99.48	No comment
AUH	96.44	No comment
AVPR2	100.00	No comment
B3GALNT2	85.88	No comment
B3GNT2	100.00	No comment
B4GALT1	100.00	No comment
B4GAT1	100.00	No comment
BCAP31	100.00	No comment
BCKDHA	100.00	No comment
BCKDHB	100.00	No comment
BCKDK	100.00	No comment
BCS1L	100.00	No comment
BOLA3	84.43	No comment
BRAF	96.97	No comment
BRAT1	100.00	No comment
BRD2	95.47	No comment
BTD	100.00	No comment
BUB1B	100.00	No comment
C12ORF57	100.00	No comment
MTRFR	100.00	No comment
CACNA1A	98.78	No comment
CACNA1D	100.00	No comment
CACNA1H	97.35	No comment
CACNA2D1	100.00	No comment
CACNA2D2	94.87	No comment
CACNB4	100.00	No comment
CAMK2B	99.93	No comment
CASK	100.00	No comment
CASQ2	100.00	No comment
CASR	100.00	No comment
CBL	100.00	No comment
CBS	100.00	No comment
CC2D2A	98.16	No comment
CCBE1	99.97	No comment
CCDC88C	99.92	No comment
CCL2	100.00	No comment
CCM2	99.98	No comment
CDK5RAP2	100.00	No comment
CDKL5	100.00	No comment
CDON	100.00	No comment
CELSR1	93.72	No comment
CENPJ	100.00	No comment
CEP135	100.00	No comment
CEP152	100.00	No comment
CEP164	100.00	No comment
CEP290	99.99	No comment
CEP41	100.00	No comment
CEP63	95.17	No comment
CERS1	77.89	No comment
CHD2	100.00	No comment
CHD8	100.00	No comment
CHKB	99.69	No comment
CHMP1A	100.00	No comment
CHRNA2	100.00	No comment
CHRNA4	97.18	No comment
CHRNA7	97.88	No comment
CHRNB2	99.92	No comment
CLCN1	100.00	No comment
CLCN2	100.00	No comment
CLCN4	100.00	No comment
CLCNKA	100.00	No comment
CLCNKB	100.00	No comment
CLDN16	100.00	No comment
CLIC2	100.00	No comment
CLN3	100.00	No comment
CLN5	99.94	No comment
CLN6	90.35	No comment
CLN8	100.00	No comment
CLPP	100.00	No comment
CNTN2	100.00	No comment
CNTNAP2	99.85	No comment
COA5	100.00	No comment
COG1	99.24	No comment
COG4	100.00	No comment
COG5	100.00	No comment
COG6	100.00	No comment
COG7	100.00	No comment
COG8	100.00	No comment
COL18A1	97.80	No comment
COL4A1	98.71	No comment
COL4A2	100.00	No comment
COQ2	97.15	No comment
COQ6	100.00	No comment
COQ8A	100.00	No comment
COQ9	99.99	No comment
COX10	100.00	No comment
COX14	100.00	No comment
COX15	100.00	No comment
COX20	98.72	No comment
COX6B1	100.00	No comment
CYP2A6	100.00	No comment
CPLANE1	100.00	No comment
CYP21A2	100.00	No comment
CPT2	98.71	No comment
CRH	100.00	No comment
CRLF1	89.81	No comment
CRPPA	95.75	No comment
CSNK1G1	100.00	No comment
CSPP1	100.00	No comment
CSTB	99.03	No comment
CTC1	100.00	No comment
CTSA	100.00	No comment
CTSD	99.45	No comment
CTSF	87.32	No comment
CUL4B	100.00	No comment
CYP27A1	99.68	No comment
CYP27B1	99.96	No comment
D2HGDH	100.00	No comment
DBT	100.00	No comment
DCHS1	99.64	No comment
DCX	100.00	No comment
DDC	100.00	No comment
DDOST	100.00	No comment
DEPDC5	99.62	No comment
DHCR24	99.96	No comment
DHCR7	100.00	No comment
DHDDS	100.00	No comment
DHFR	99.48	No comment
DLD	100.00	No comment
DLGAP2	100.00	No comment
DMD	100.00	No comment
DNAJC5	100.00	No comment
DNAJC6	100.00	No comment
DNM1	94.44	No comment
DOCK6	99.12	No comment
DOCK7	99.17	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
DPYD	100.00	No comment
DPYS	99.91	No comment
DYNC1H1	100.00	No comment
DYRK1A	100.00	No comment
EARS2	100.00	No comment
ECM1	100.00	No comment
EEF1A2	99.76	No comment
EFHC1	100.00	No comment
EFHC2	100.00	No comment
EFTUD2	100.00	No comment
EHMT1	98.85	No comment
EIF2B1	100.00	No comment
EIF2B2	100.00	No comment
EIF2B3	100.00	No comment
EIF2B4	100.00	No comment
EIF2B5	100.00	No comment
ELOVL4	100.00	No comment
ELP1	100.00	No comment
ELP4	92.12	No comment
EMX2	100.00	No comment
EOMES	98.56	No comment
EPG5	100.00	No comment
EPM2A	85.54	No comment
ERLIN2	100.00	No comment
ERMARD	100.00	No comment
ETFA	100.00	No comment
ETFB	100.00	No comment
ETFDH	100.00	No comment
ETHE1	99.88	No comment
EXOC6B	100.00	No comment
EXOSC3	100.00	No comment
EZH2	100.00	No comment
FA2H	92.06	No comment
FADD	92.08	No comment
HYCC1	100.00	No comment
FARS2	100.00	No comment
FASTKD2	100.00	No comment
FAT4	100.00	No comment
FBXL4	100.00	No comment
FGD1	99.39	No comment
FGF8	94.82	No comment
FGFR3	99.26	No comment
FH	100.00	No comment
FKRP	98.68	No comment
FKTN	100.00	No comment
FLNA	100.00	No comment
FLVCR2	100.00	No comment
FMR1	100.00	No comment
FOLR1	100.00	No comment
FOXG1	85.88	No comment
FOXH1	100.00	No comment
FTO	100.00	No comment
FUCA1	100.00	No comment
GABBR2	95.78	No comment
GABRA1	100.00	No comment
GABRB2	100.00	No comment
GABRB3	99.79	No comment
GABRD	94.04	No comment
GABRG2	92.03	No comment
GAL	100.00	No comment
GALC	98.44	No comment
GALNS	96.18	No comment
GAMT	98.60	No comment
GATA3	100.00	No comment
GATA6	81.11	No comment
GATM	99.26	No comment
GBA1	100.00	No comment
GCDH	100.00	No comment
GCH1	96.30	No comment
GCK	100.00	No comment
GCM2	100.00	No comment
GCSH	76.04	No comment
GFAP	100.00	No comment
GFM1	100.00	No comment
GJC2	81.91	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GLDC	96.53	No comment
GLI2	95.11	No comment
GLI3	100.00	No comment
GLRA1	100.00	No comment
GLRB	100.00	No comment
GLUD1	99.45	No comment
GLUL	100.00	No comment
GLYCTK	100.00	No comment
GM2A	100.00	No comment
GMPPB	100.00	No comment
GNAO1	100.00	No comment
GNE	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GNS	100.00	No comment
GOSR2	100.00	No comment
GPC3	100.00	No comment
GPHN	100.00	No comment
GRIA3	100.00	No comment
GRIN1	99.97	No comment
GRIN2A	100.00	No comment
GRIN2B	100.00	No comment
GRINA	100.00	No comment
GRN	100.00	No comment
GTPBP3	100.00	No comment
GUSB	100.00	No comment
HADH	100.00	No comment
HAX1	100.00	No comment
HCCS	100.00	No comment
HCFC1	100.00	No comment
HCN1	95.88	No comment
HCN4	92.35	No comment
HDAC4	100.00	No comment
HDAC8	100.00	No comment
HEPACAM	96.82	No comment
HERC2	99.62	No comment
HESX1	100.00	No comment
HEXA	100.00	No comment
HEXB	99.82	No comment
HGSNAT	93.95	No comment
HLCS	100.00	No comment
HMBS	100.00	No comment
HNRNPU	99.54	No comment
HPD	100.00	No comment
HRAS	100.00	No comment
HSD17B10	100.00	No comment
HSD17B4	100.00	No comment
HSPD1	99.53	No comment
HYAL1	100.00	No comment
IDH2	92.01	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
IER3IP1	99.93	No comment
INPP5E	99.54	No comment
INS	100.00	No comment
INSR	97.31	No comment
IQSEC2	99.73	No comment
IVD	100.00	No comment
JAM3	100.00	No comment
JRK	100.00	No comment
KANSL1	100.00	No comment
KAT6A	100.00	No comment
KAT6B	100.00	No comment
KCNA1	100.00	No comment
KCNA2	100.00	No comment
KCNAB1	100.00	No comment
KCNB1	99.89	No comment
KCNC1	100.00	No comment
KCND2	100.00	No comment
KCNH1	100.00	No comment
KCNH2	94.44	No comment
KCNH5	100.00	No comment
KCNJ1	100.00	No comment
KCNJ10	100.00	No comment
KCNJ11	100.00	No comment
KCNK18	100.00	No comment
KCNMA1	99.94	No comment
KCNQ2	99.98	No comment
KCNQ3	96.44	No comment
KCNT1	99.74	No comment
KCNV2	100.00	No comment
KCTD7	97.35	No comment
KDM5C	100.00	No comment
KDM6A	100.00	No comment
KIF11	100.00	No comment
KIFBP	100.00	No comment
KIF2A	98.88	No comment
KIF4A	100.00	No comment
KIF5C	100.00	No comment
KIF7	96.94	No comment
KMT2B	97.12	No comment
KMT2D	100.00	No comment
KNL1	98.62	No comment
KPTN	100.00	No comment
KRAS	100.00	No comment
KRIT1	100.00	No comment
L1CAM	100.00	No comment
L2HGDH	99.96	No comment
LAMA2	100.00	No comment
LAMB1	100.00	No comment
LAMC3	97.51	No comment
LARGE1	100.00	No comment
LBR	100.00	No comment
LGI1	100.00	No comment
LIAS	100.00	No comment
LIG1	100.00	No comment
LIG4	100.00	No comment
LMBRD1	100.00	No comment
LRFN1	100.00	No comment
LRFN2	100.00	No comment
LRFN3	99.97	No comment
LRFN4	100.00	No comment
LRFN5	100.00	No comment
LRP2	99.96	No comment
LRPPRC	99.14	No comment
MAGI2	92.73	No comment
MAGT1	100.00	No comment
MAN1B1	99.99	No comment
MAP2K1	100.00	No comment
MAP2K2	99.98	No comment
MAPK10	100.00	No comment
MBD5	100.00	No comment
MBTPS2	100.00	No comment
MCCC1	100.00	No comment
MCOLN1	97.27	No comment
MCPH1	100.00	No comment
ME2	100.00	No comment
MECP2	98.28	No comment
MED12	100.00	No comment
MED17	100.00	No comment
MEF2C	100.00	No comment
MFSD8	100.00	No comment
MGAT2	100.00	No comment
MGME1	100.00	No comment
MLC1	100.00	No comment
MLYCD	85.50	No comment
MMACHC	100.00	No comment
MMADHC	100.00	No comment
MMUT	100.00	No comment
MOCS1	99.95	No comment
MOCS2	100.00	No comment
MOGS	98.73	No comment
MPDU1	100.00	No comment
MPDZ	100.00	No comment
MPI	100.00	No comment
MSX2	100.00	No comment
MTHFR	100.00	No comment
MTOR	100.00	No comment
MTR	100.00	No comment
MTRR	100.00	No comment
MYO5A	99.60	No comment
NAA10	96.03	No comment
NAGA	100.00	No comment
NAGLU	87.38	No comment
NALCN	100.00	No comment
NDE1	100.00	No comment
NDP	100.00	No comment
NDUFA1	100.00	No comment
NDUFA10	95.87	No comment
NDUFA11	98.06	No comment
NDUFA12	100.00	No comment
NDUFA2	100.00	No comment
NDUFA9	100.00	No comment
NDUFAF1	100.00	No comment
NDUFAF2	100.00	No comment
NDUFAF3	100.00	No comment
NDUFAF4	100.00	No comment
NDUFAF5	100.00	No comment
NDUFAF6	93.73	No comment
NDUFB3	100.00	No comment
NDUFS1	100.00	No comment
NDUFS2	100.00	No comment
NDUFS3	100.00	No comment
NDUFS4	100.00	No comment
NDUFS6	100.00	No comment
NDUFS7	99.49	No comment
NDUFS8	100.00	No comment
NDUFV1	100.00	No comment
NDUFV2	100.00	No comment
NECAP1	100.00	No comment
NEDD4L	100.00	No comment
NEU1	100.00	No comment
NEXMIF	100.00	No comment
NF1	99.95	No comment
NFIX	97.15	No comment
NGLY1	99.98	No comment
NHEJ1	100.00	No comment
NHLRC1	99.73	No comment
NIN	100.00	No comment
NIPA2	100.00	No comment
NIPBL	99.98	No comment
NLGN4X	100.00	No comment
NLGN4Y	55.32	No comment
NODAL	99.99	No comment
NOTCH3	92.99	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
NPHP1	100.00	No comment
NPRL2	100.00	No comment
NPRL3	100.00	No comment
NRAS	100.00	No comment
NRXN1	98.52	No comment
NSD1	100.00	No comment
NSDHL	100.00	No comment
NTRK2	100.00	No comment
NUBPL	100.00	No comment
NUS1	100.00	No comment
OCLN	100.00	No comment
OCRL	99.77	No comment
OFD1	99.88	No comment
OPHN1	100.00	No comment
OTC	100.00	No comment
OTX2	100.00	No comment
PAFAH1B1	100.00	No comment
PAH	99.94	No comment
PAK3	100.00	No comment
PANK2	98.60	No comment
PAX6	100.00	No comment
PODXL	100.00	No comment
PCBD1	92.74	No comment
PCDH19	99.91	No comment
PCNT	100.00	No comment
PDCD10	100.00	No comment
PDE6D	100.00	No comment
PDGFB	99.77	No comment
PDGFRB	100.00	No comment
PDHA1	98.17	No comment
PDHX	99.87	No comment
PDP1	100.00	No comment
PDSS1	86.24	No comment
PDSS2	100.00	No comment
PET100	100.00	No comment
PEX1	100.00	No comment
PEX10	88.47	No comment
PEX11B	100.00	No comment
PEX12	100.00	No comment
PEX13	100.00	No comment
PEX14	100.00	No comment
PEX16	100.00	No comment
PEX19	100.00	No comment
PEX2	100.00	No comment
PEX26	100.00	No comment
PEX3	100.00	No comment
PEX5	100.00	No comment
PEX6	98.56	No comment
PEX7	91.13	No comment
PGAP2	100.00	No comment
PGAP3	99.90	No comment
PGK1	100.00	No comment
PGM1	100.00	No comment
PHF6	100.00	No comment
PHGDH	100.00	No comment
PIGA	100.00	No comment
PIGL	100.00	No comment
PIGM	100.00	No comment
PIGN	100.00	No comment
PIGO	100.00	No comment
PIGQ	100.00	No comment
PIGV	100.00	No comment
PIK3AP1	99.56	No comment
PIK3CA	100.00	No comment
PIK3R2	89.19	No comment
PLA2G6	100.00	No comment
PLCB1	100.00	No comment
PLP1	100.00	No comment
PMM2	100.00	No comment
PNKP	100.00	No comment
PNPO	100.00	No comment
POLG	100.00	No comment
POLG2	100.00	No comment
POLR3A	100.00	No comment
POLR3B	100.00	No comment
POMC	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	99.90	No comment
PPFIA1	100.00	No comment
PPFIA2	100.00	No comment
PPFIA3	98.81	No comment
PPFIA4	100.00	No comment
PPFIBP1	100.00	No comment
PPFIBP2	100.00	No comment
PPP2R2C	100.00	No comment
PPT1	100.00	No comment
PQBP1	100.00	No comment
PRF1	100.00	No comment
PRICKLE1	100.00	No comment
PRICKLE2	100.00	No comment
PRODH	86.43	No comment
PRRT2	100.00	No comment
PSAP	100.00	No comment
PSAT1	100.00	No comment
PTCH1	98.48	No comment
PTEN	98.86	No comment
PTH	100.00	No comment
PTPN11	98.80	No comment
PTS	100.00	No comment
PURA	85.32	No comment
QARS1	100.00	No comment
QDPR	99.04	No comment
RAB18	100.00	No comment
RAB27A	100.00	No comment
RAB39B	100.00	No comment
RAB3GAP1	100.00	No comment
RAB3GAP2	100.00	No comment
RAD21	100.00	No comment
RAF1	100.00	No comment
RAI1	96.06	No comment
RANGAP1	100.00	No comment
RARS2	100.00	No comment
RBBP8	100.00	No comment
RBFOX1	99.94	No comment
RBFOX3	99.96	No comment
RELN	99.96	No comment
RFT1	100.00	No comment
RGMA	99.10	No comment
RHOBTB2	100.00	No comment
RNASEH2A	100.00	No comment
RNASEH2B	95.67	No comment
RNASEH2C	100.00	No comment
RNASET2	99.98	No comment
ROGDI	91.80	No comment
RORB	100.00	No comment
RPGRIP1L	96.45	No comment
RPIA	100.00	No comment
RRM2B	100.00	No comment
RTTN	100.00	No comment
RUBCN	97.68	No comment
RXYLT1	99.84	No comment
RYR3	100.00	No comment
SAMHD1	100.00	No comment
SATB2	100.00	No comment
SCARB2	100.00	No comment
SCN10A	100.00	No comment
SCN1A	100.00	No comment
SCN1B	94.12	No comment
SCN2A	100.00	No comment
SCN2B	100.00	No comment
SCN3A	100.00	No comment
SCN3B	100.00	No comment
SCN4A	100.00	No comment
SCN4B	100.00	No comment
SCN5A	100.00	No comment
SCN8A	100.00	No comment
SCN9A	100.00	No comment
SCO2	100.00	No comment
SDHA	98.02	No comment
SDHAF1	96.03	No comment
SEPSECS	99.97	No comment
SERPINI1	100.00	No comment
SETBP1	99.99	No comment
SGSH	99.99	No comment
SHANK3	83.99	No comment
SHH	92.83	No comment
SHOC2	100.00	No comment
SHROOM4	100.00	No comment
SIK1	100.00	No comment
SIX3	99.59	No comment
SLC12A5	100.00	No comment
SLC12A6	100.00	No comment
SLC13A5	100.00	No comment
SLC16A1	100.00	No comment
SLC16A2	100.00	No comment
SLC17A5	100.00	No comment
SLC19A3	100.00	No comment
SLC1A3	100.00	No comment
SLC20A2	100.00	No comment
SLC25A1	93.77	No comment
SLC25A12	100.00	No comment
SLC25A15	100.00	No comment
SLC25A19	100.00	No comment
SLC25A20	100.00	No comment
SLC25A22	100.00	No comment
SLC2A1	99.94	No comment
SLC2A2	100.00	No comment
SLC35A1	100.00	No comment
SLC35A2	100.00	No comment
SLC35C1	100.00	No comment
SLC3A2	88.97	No comment
SLC46A1	99.95	No comment
SLC4A10	100.00	No comment
SLC6A1	100.00	No comment
SLC6A5	100.00	No comment
SLC6A8	98.78	No comment
SLC9A6	99.96	No comment
SLC9A9	100.00	No comment
SMARCA1	99.59	No comment
SMARCA2	98.07	No comment
SMARCA4	100.00	No comment
SMARCB1	100.00	No comment
SMARCE1	100.00	No comment
SMC1A	100.00	No comment
SMC3	100.00	No comment
SMPD1	100.00	No comment
SNAP25	100.00	No comment
SNAP29	100.00	No comment
SNIP1	100.00	No comment
SOS1	100.00	No comment
SOX10	96.79	No comment
SOX2	98.05	No comment
SPRED1	100.00	No comment
SPTAN1	100.00	No comment
SRD5A3	99.42	No comment
SRGAP3	100.00	No comment
SRPX2	100.00	No comment
ST3GAL3	100.00	No comment
ST3GAL5	92.64	No comment
STAMBP	100.00	No comment
STIL	100.00	No comment
STRADA	100.00	No comment
STX1B	100.00	No comment
STXBP1	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUMF1	100.00	No comment
SUOX	100.00	No comment
SURF1	87.74	No comment
SYN1	95.92	No comment
SYNGAP1	100.00	No comment
SYNJ1	99.96	No comment
SYP	99.27	No comment
SZT2	100.00	No comment
TACO1	99.90	No comment
TBC1D20	93.59	No comment
TBC1D24	100.00	No comment
TBCE	100.00	No comment
TBX1	77.39	No comment
TCF4	100.00	No comment
TCTN1	93.78	No comment
TCTN2	100.00	No comment
TCTN3	100.00	No comment
TGIF1	100.00	No comment
TK2	95.90	No comment
TMEM138	100.00	No comment
TMEM165	89.91	No comment
TMEM216	100.00	No comment
TMEM231	100.00	No comment
TMEM237	99.97	No comment
TMEM67	100.00	No comment
TMEM70	100.00	No comment
TNK2	100.00	No comment
ACD	100.00	No comment
TREM2	100.00	No comment
TREX1	100.00	No comment
TRPM6	100.00	No comment
TSC1	100.00	No comment
TSC2	100.00	No comment
TSEN2	100.00	No comment
TSEN34	100.00	No comment
TSEN54	94.23	No comment
TTC21B	100.00	No comment
TTR	100.00	No comment
TUBA1A	100.00	No comment
TUBA8	100.00	No comment
TUBB2A	99.99	No comment
TUBB2B	100.00	No comment
TUBB3	98.24	No comment
TUBB4A	99.85	No comment
TUBG1	100.00	No comment
TUSC3	100.00	No comment
TWNK	100.00	No comment
TYROBP	100.00	No comment
UBE2A	99.62	No comment
UBE3A	100.00	No comment
UBR5	100.00	No comment
UPB1	100.00	No comment
VANGL1	100.00	No comment
VARS2	100.00	No comment
VDAC1	99.21	No comment
VLDLR	96.53	No comment
VPS13A	100.00	No comment
VPS13B	99.25	No comment
VPS53	100.00	No comment
VRK1	100.00	No comment
WDR45	100.00	No comment
WDR62	100.00	No comment
WFS1	100.00	No comment
WWOX	100.00	No comment
XK	100.00	No comment
ZBTB18	100.00	No comment
ZC4H2	100.00	No comment
ZDHHC9	100.00	No comment
ZEB2	100.00	No comment
ZIC2	80.54	No comment
ZNF335	100.00	No comment

Lysomal Storage (64 genes) - VUB

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ADCY5	94.52	No comment
AGA	100.00	No comment
ARSA	100.00	No comment
SLURP1	85.73	No comment
ASAH1	99.94	No comment
CHIT1	100.00	No comment
CLN3	100.00	No comment
CLN5	99.94	No comment
CLN6	90.35	No comment
CLN8	100.00	No comment
CTNS	100.00	No comment
CTSA	100.00	No comment
CTSC	100.00	No comment
CTSD	99.45	No comment
CTSK	100.00	No comment
DGUOK	100.00	No comment
FBXL4	100.00	No comment
FUCA1	100.00	No comment
GAA	100.00	No comment
GALC	98.44	No comment
GALNS	96.18	No comment
GBA1	100.00	No comment
GLA	100.00	No comment
GLB1	100.00	No comment
GM2A	100.00	No comment
GNPTAB	100.00	No comment
GNPTG	94.69	No comment
GNS	100.00	No comment
GUSB	100.00	No comment
HEXA	100.00	No comment
HEXB	99.82	No comment
HGSNAT	93.95	No comment
HYAL1	100.00	No comment
IDS	100.00	No comment
IDUA	88.67	No comment
LAMP2	100.00	No comment
LIPA	100.00	No comment
MAN2B1	100.00	No comment
MANBA	99.97	No comment
MCOLN1	97.27	No comment
MFSD8	100.00	No comment
MGME1	100.00	No comment
MPV17	100.00	No comment
NAGA	100.00	No comment
NAGLU	87.38	No comment
NEU1	100.00	No comment
NPC1	98.40	No comment
NPC2	100.00	No comment
OCRL	99.77	No comment
POLG	100.00	No comment
PPT1	100.00	No comment
PSAP	100.00	No comment
RRM2B	100.00	No comment
SGSH	99.99	No comment
SLC17A5	100.00	No comment
SMPD1	100.00	No comment
STS	100.00	No comment
SUCLA2	100.00	No comment
SUCLG1	95.74	No comment
SUMF1	100.00	No comment
TK2	95.90	No comment
ACD	100.00	No comment
TWNK	100.00	No comment
TYMP	91.72	No comment