UNC119 | Belgian Genetic Tests database

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Name:	unc-119 lipid binding chaperone
Symbol:	UNC119
Version of Orphanet:	2023-06-22 14:14:43
Synonyms:	HRG4 POC7 POC7 centriolar protein homolog A (Chlamydomonas) POC7A
XREF(s):	Orphanet Ensembl Genatlas HGNC OMIM SwissProt Reactome
Created:	13 May 2019 - 01:01
Changed:	22 Jun 2023 - 16:14

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Primary immune deficiencies - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACD	100.00	1
ACP5	100.00	1
ACTB	100.00	1
ADA	99.97	1
ADA2	100.00	1
ADAM17	99.94	1
ADAR	99.84	1
AICDA	99.94	1
AIRE	99.95	1
AK2	99.39	1
ALPI	100.00	1
AP1S3	100.00	1
AP3B1	99.89	1
AP3D1	100.00	1
APOL1	99.99	1
ARHGEF1	99.97	1
ARPC1B	99.92	1
ATG16L1	99.95	1
ATG4A	99.86	1
ATM	99.83	1
ATP2A2	99.98	1
ATP6AP1	100.00	1
B2M	100.00	1
BACH2	99.99	1
BCL10	99.74	1
BCL11B	100.00	1
BLK	99.98	1
BLM	99.80	1
BLNK	99.90	1
BLOC1S3	100.00	1
BLOC1S6	99.98	1
BTK	99.88	1
C1QA	99.99	1
C1QB	99.58	1
C1QC	99.97	1
C1R	99.99	1
C1S	99.98	1
C2	99.99	1
C2orf69	99.97	1
C3	100.00	1
C4A	21.28	1
C4BPA	99.95	1
C5	99.92	1
C6	99.97	1
C7	99.94	1
C8A	99.95	1
C8B	99.37	1
C8G	99.99	1
C9	99.89	1
CARD11	99.97	1
CARD14	99.99	1
CARD9	100.00	1
CARMIL2	99.99	1
CASP10	99.85	1
CASP8	99.92	1
CBL	99.95	1
CCBE1	99.52	1
CCDC28B	99.99	1
CD19	99.98	1
CD247	99.79	1
CD27	99.95	1
CD3D	100.00	1
CD3E	100.00	1
CD3G	100.00	1
CD4	100.00	1
CD40	100.00	1
CD40LG	99.88	1
CD46	99.86	1
CD55	74.12	1
CD59	100.00	1
CD70	99.99	1
CD79A	99.97	1
CD79B	99.93	1
CD81	99.97	1
CD8A	99.97	1
CDC42	98.05	1
CDCA7	99.88	1
CEBPE	100.00	1
CFB	99.97	1
CFD	99.99	1
CFH	99.12	1
CFHR1	84.44	1
CFHR2	90.26	1
CFHR3	91.62	1
CFHR4	99.86	1
CFHR5	99.68	1
CFI	99.87	1
CFP	99.96	1
CFTR	99.45	1
CHD7	99.99	1
CIB1	99.92	1
CIITA	99.99	1
CLCN7	99.99	1
CLEC7A	99.98	1
CLPB	99.97	1
COL7A1	99.99	1
COPA	99.61	1
CORO1A	91.71	1
CPT2	99.65	1
CR2	99.97	1
CREBBP	99.97	1
CSF2RA	93.86	1
CSF2RB	100.00	1
CSF3R	99.97	1
CTC1	100.00	1
CTLA4	99.99	1
CTNNBL1	100.00	1
CTPS1	98.63	1
CTSC	99.97	1
CXCR4	99.98	1
CYBA	99.96	1
CYBB	99.87	1
CYBC1	100.00	1
DBR1	99.92	1
DCLRE1B	99.91	1
DCLRE1C	99.79	1
RIGI	99.84	1
DEF6	100.00	1
DGKE	99.10	1
DHFR	98.89	1
DKC1	99.59	1
DNAJC21	99.67	1
DNASE1	100.00	1
DNASE1L3	99.90	1
DNASE2	100.00	1
DNMT3B	99.98	1
DOCK2	100.00	1
DOCK8	99.86	1
DOK3	99.95	1
DTNBP1	99.89	1
EFL1	99.83	1
ELANE	100.00	1
ELF4	99.97	1
EPG5	99.95	1
ERBIN	99.69	1
ERCC6L2	99.94	1
EXTL3	99.99	1
F12	99.99	1
FAAP24	99.95	1
FADD	99.97	1
FAS	99.99	1
FASLG	99.84	1
FAT4	99.98	1
FCGR2B	70.97	1
FCGR3A	99.93	1
FCGR3B	95.51	1
FCHO1	99.99	1
FCN3	99.48	1
FERMT1	99.90	1
FERMT3	99.99	1
FNIP1	99.87	1
FOXN1	99.97	1
FOXP3	99.93	1
FPR1	100.00	1
G6PC3	99.98	1
G6PD	99.97	1
GATA1	99.97	1
GATA2	99.99	1
GFI1	99.88	1
GIMAP5	100.00	1
GINS1	99.99	1
GUCY2C	99.90	1
HAVCR2	99.93	1
HAX1	100.00	1
HELLS	99.78	1
HMOX1	99.95	1
HPS1	100.00	1
HPS4	99.98	1
HPS6	100.00	1
HTRA2	99.99	1
HYOU1	99.97	1
ICOS	99.95	1
ICOSLG	5.95	1
IFIH1	99.84	1
IFNAR1	99.75	1
IFNAR2	89.62	1
IFNG	99.50	1
IFNGR1	99.87	1
IFNGR2	99.95	1
IGHM	100.00	1
IGKC	99.99	1
IGLL1	100.00	1
IKBKB	99.93	1
IKBKG	57.34	1
IKZF1	99.92	1
IL10	100.00	1
IL10RA	99.99	1
IL10RB	99.99	1
IL12B	99.98	1
IL12RB1	94.11	1
IL12RB2	97.66	1
IL15RA	99.96	1
IL17F	99.99	1
IL17RA	100.00	1
IL17RC	100.00	1
IL18	99.85	1
IL18BP	99.99	1
IL1RL1	99.76	1
IL1RN	99.64	1
IL21	99.95	1
IL21R	99.70	1
IL23R	97.64	1
IL2RA	99.99	1
IL2RB	100.00	1
IL2RG	99.86	1
IL36RN	100.00	1
IL6R	92.46	1
IL6ST	99.88	1
IL7R	99.99	1
ILRUN	100.00	1
INO80	99.96	1
IRAK1	99.98	1
IRAK4	98.85	1
IRF2BP2	100.00	1
IRF3	99.96	1
IRF4	99.99	1
IRF7	100.00	1
IRF8	99.99	1
IRF9	100.00	1
ISG15	100.00	1
ITCH	95.57	1
ITGB2	100.00	1
ITK	99.91	1
ITPKB	99.99	1
IVNS1ABP	99.24	1
JAGN1	100.00	1
JAK1	99.32	1
JAK3	99.99	1
KDM6A	99.74	1
KMT2A	99.97	1
KMT2D	99.98	1
KRAS	99.13	1
LACC1	99.99	1
LAMTOR2	99.92	1
LAT	99.85	1
LCK	99.56	1
LCP2	99.58	1
LIG1	99.93	1
LIG4	100.00	1
LIPA	99.96	1
LPIN2	100.00	1
LRBA	99.76	1
LRRC8A	100.00	1
LSM11	100.00	1
LYST	99.87	1
MAGT1	99.54	1
MALT1	99.71	1
MAN2B1	99.99	1
MAP1LC3B2	100.00	1
MAP3K14	99.98	1
MAPK8	99.64	1
MASP1	99.99	1
MASP2	99.95	1
MBL2	99.93	1
MCM10	99.99	1
MCM4	99.96	1
MEFV	100.00	1
MOGS	100.00	1
MPEG1	100.00	1
MPO	99.97	1
MRE11	99.93	1
MRTFA	92.99	1
MS4A1	99.60	1
MSH6	99.97	1
MSN	99.98	1
MTHFD1	100.00	1
MVK	99.97	1
MYD88	99.99	1
MYO5B	100.00	1
MYSM1	94.16	1
NBAS	99.86	1
NBN	99.93	1
NCF1	57.22	1
NCF2	99.85	1
NCF4	100.00	1
NCKAP1L	99.77	1
NCSTN	99.82	1
NFAT5	99.93	1
NFE2L2	99.97	1
NFKB1	99.80	1
NFKB2	99.98	1
NFKBIA	99.99	1
NHEJ1	99.91	1
NHP2	99.96	1
NKX2-5	99.75	1
NLRC4	99.95	1
NLRP1	95.26	1
NLRP12	99.99	1
NLRP3	100.00	1
NLRP7	99.99	1
NOD2	99.98	1
NOP10	99.99	1
NOS2	96.11	1
NPC1	99.99	1
NRAS	99.66	1
NSMCE3	100.00	1
OAS1	99.96	1
ORAI1	99.63	1
OSTM1	99.56	1
OTULIN	99.95	1
PARN	99.75	1
PAX1	100.00	1
PCCA	99.90	1
PCCB	99.97	1
PEPD	99.98	1
PGM3	99.94	1
PIK3CD	99.99	1
PIK3CG	99.72	1
PIK3R1	99.86	1
PLCG2	99.99	1
PLEKHM1	99.77	1
PLG	99.89	1
PMS2	70.47	1
PNP	100.00	1
POLA1	99.57	1
POLD1	99.96	1
POLD2	99.95	1
POLE	99.99	1
POLE2	99.87	1
POLR3A	99.97	1
POLR3C	99.89	1
POLR3F	99.97	1
NT5C3A	99.95	1
PRF1	100.00	1
PRIM1	99.07	1
PRKCD	99.96	1
PRKDC	99.93	1
PSEN1	100.00	1
PSENEN	100.00	1
PSMA3	99.96	1
PSMB10	99.98	1
PSMB4	99.83	1
PSMB8	99.96	1
PSMB9	99.68	1
PSMG2	99.98	1
PSTPIP1	99.91	1
PSTPIP2	99.98	1
PTEN	99.89	1
PTPN11	99.98	1
PTPN2	99.98	1
PTPN6	100.00	1
PTPRC	93.90	1
RAB27A	99.94	1
RAC2	99.99	1
RAG1	100.00	1
RAG2	100.00	1
RANBP2	99.37	1
RASGRP1	100.00	1
RBCK1	100.00	1
RC3H1	99.22	1
RECQL4	100.00	1
REL	96.99	1
RELA	99.99	1
RELB	99.97	1
RFX5	99.88	1
RFXANK	100.00	1
RFXAP	99.98	1
RHOH	99.99	1
RIPK1	99.93	1
RMRP	100.00	1
RNASEH2A	99.95	1
RNASEH2B	99.94	1
RNASEH2C	99.99	1
RNF168	99.97	1
RNF31	100.00	1
RORC	99.42	1
RPSA	0.00	1
RTEL1	100.00	1
SAMD9	99.93	1
SAMD9L	99.95	1
SAMHD1	99.98	1
SASH3	99.99	1
SBDS	99.93	1
SDHA	99.98	1
SEC61A1	99.99	1
SEMA3E	99.13	1
SERPING1	100.00	1
SGPL1	99.95	1
SH2D1A	98.98	1
SH3BP2	100.00	1
SH3KBP1	99.95	1
SKIC2	99.98	1
SLC11A1	99.99	1
SLC29A3	99.98	1
SLC35C1	100.00	1
SLC37A4	99.90	1
SLC39A7	100.00	1
SLC46A1	100.00	1
SLC7A7	99.99	1
SLC9A3	100.00	1
SMARCAL1	99.97	1
SMARCD2	99.99	1
SNX10	99.96	1
SOCS1	99.98	1
SOCS4	99.92	1
PMP22	99.99	1
SPI1	99.81	1
SPINK5	99.91	1
SPPL2A	99.88	1
SRP54	99.83	1
SRP72	99.91	1
STAT1	99.83	1
STAT2	99.89	1
STAT3	99.97	1
STAT4	99.77	1
STAT5B	99.50	1
STAT6	99.87	1
STIM1	99.99	1
STING1	99.87	1
STK4	99.91	1
STN1	99.88	1
STX11	100.00	1
STXBP2	100.00	1
STXBP3	85.74	1
SYK	99.96	1
TAFAZZIN	99.98	1
TAP1	99.97	1
TAP2	99.94	1
TAPBP	99.98	1
TBK1	99.07	1
TBX1	99.95	1
TBX21	99.99	1
TCF3	100.00	1
TCIRG1	99.99	1
TCN2	100.00	1
TERC	98.59	1
TERT	100.00	1
TET2	99.99	1
TFRC	99.87	1
TGFB1	100.00	1
TGFBR1	99.94	1
TGFBR2	99.98	1
THBD	100.00	1
TICAM1	99.99	1
TINF2	100.00	1
TIRAP	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TLR7	99.98	1
TMC6	100.00	1
TMC8	99.92	1
TNFAIP3	99.94	1
TNFRSF11A	100.00	1
TNFRSF13B	99.43	1
TNFRSF13C	99.99	1
TNFRSF1A	100.00	1
TNFRSF4	100.00	1
TNFRSF9	99.99	1
TNFSF11	99.89	1
TNFSF12	100.00	1
TNFSF13	100.00	1
TOP2B	99.72	1
TPP2	99.89	1
TRAC	100.00	1
TRAF3	99.97	1
TRAF3IP2	100.00	1
TREX1	100.00	1
TRIM22	100.00	1
TRNT1	99.97	1
SKIC3	99.82	1
TTC7A	99.77	1
TYK2	99.99	1
UBA1	99.93	1
UNC119	100.00	1
UNC13D	100.00	1
UNC93B1	99.75	1
UNG	100.00	1
USB1	89.62	1
USP18	93.05	1
VAV1	99.99	1
VPS13B	99.90	1
VPS45	93.94	1
WAS	99.90	1
WDR1	99.99	1
WIPF1	99.87	1
WRAP53	100.00	1
XBP1	99.99	1
XIAP	99.36	1
ZAP70	99.95	1
ZBTB24	99.99	1
ZNF341	100.00	1
ZNFX1	99.99	1

Retinal dystrophy - UGent

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ABCA4	99.30	1
ABCC6	98.57	1
ABHD12	99.98	1
ACBD5	99.97	1
ACO2	99.99	1
ADAM9	99.89	1
ADAMTS18	99.99	1
ADGRA3	99.90	1
ADGRV1	99.80	1
ADIPOR1	99.83	1
AFG3L2	99.97	1
AGBL5	99.98	1
AHI1	99.86	1
AHR	99.79	1
AIPL1	100.00	1
ALMS1	99.90	1
ARHGEF18	99.97	1
ARL2BP	99.89	1
ARL3	99.98	1
ARL6	99.90	1
ARMS2	100.00	1
ARSG	100.00	1
ASRGL1	99.84	1
ATF6	98.19	1
ATXN7	99.98	1
BBIP1	99.99	1
BBS1	100.00	1
BBS10	99.98	1
BBS12	100.00	1
BBS2	99.90	1
BBS4	99.88	1
BBS5	99.00	1
BBS7	99.42	1
BBS9	99.75	1
BEST1	99.86	1
MFRP	100.00	1
C2	99.99	1
C3	100.00	1
CA4	100.00	1
CABP4	100.00	1
CACNA1F	99.94	1
CACNA2D4	99.99	1
CAPN5	99.88	1
CC2D2A	99.95	1
CCT2	98.46	1
CDH23	99.95	1
CDH3	99.98	1
CDHR1	99.72	1
CEP164	99.99	1
CEP19	99.99	1
CEP250	99.93	1
CEP290	98.10	1
CEP78	99.95	1
CERKL	99.91	1
CFAP410	100.00	1
CFAP418	100.00	1
CFB	99.97	1
CFH	99.12	1
CHM	96.46	1
CIB2	100.00	1
CLCC1	93.17	1
CLN3	99.92	1
CLRN1	99.99	1
CLUAP1	99.95	1
CNGA1	99.60	1
CNGA3	99.95	1
CNGB1	97.53	1
CNGB3	99.96	1
CNNM4	99.93	1
COL11A1	90.72	1
COL2A1	99.87	1
COL9A1	99.91	1
CRB1	99.73	1
CRX	99.96	1
CSPP1	98.31	1
CTNNA1	99.98	1
CWC27	99.67	1
CYP4V2	99.98	1
DHDDS	98.65	1
DHX38	99.97	1
DMD	99.76	1
DRAM2	96.06	1
DTHD1	99.92	1
DYNC2H1	99.66	1
EFEMP1	99.68	1
ELOVL1	100.00	1
ELOVL4	99.91	1
EMC1	99.85	1
ERCC6	99.60	1
ESPN	100.00	1
EXOSC2	100.00	1
EYS	99.86	1
FAM161A	99.77	1
FBLN5	100.00	1
FBN2	99.90	1
FLVCR1	99.91	1
FSCN2	100.00	1
FZD4	100.00	1
GDF6	100.00	1
GNAT1	100.00	1
GNAT2	99.87	1
GNB3	100.00	1
GNPTG	100.00	1
GPR179	99.99	1
GRID2	99.97	1
GRK1	99.99	1
GRM6	100.00	1
GUCA1A	100.00	1
GUCA1B	99.99	1
GUCY2D	100.00	1
HARS1	99.96	1
HGSNAT	99.93	1
HK1	99.97	1
HMCN1	99.44	1
HMX1	100.00	1
HTRA1	100.00	1
IDH3A	99.98	1
IDH3B	100.00	1
IFT140	100.00	1
IFT172	99.98	1
IFT27	100.00	1
IFT43	99.97	1
IFT81	94.64	1
IFT88	98.26	1
IMPDH1	92.77	1
IMPG1	99.93	1
IMPG2	99.97	1
INPP5E	99.85	1
INVS	99.94	1
IQCB1	99.72	1
ITM2B	99.85	1
JAG1	100.00	1
KCNJ13	99.99	1
KCNV2	99.97	1
KIAA1549	99.98	1
KIF11	99.84	1
KIF3B	99.99	1
KIZ	99.98	1
KLHL7	99.95	1
LAMA1	99.98	1
LAMB2	99.99	1
LCA5	99.89	1
LRAT	100.00	1
LRIT3	100.00	1
LRP5	99.95	1
LZTFL1	100.00	1
MAK	99.47	1
MAPKAPK3	99.97	1
MERTK	98.90	1
MFN2	99.98	1
MFSD8	99.70	1
MIR204	100.00	1
MKKS	100.00	1
MKS1	99.92	1
MTRFR	99.87	1
MTTP	99.92	1
MVK	99.97	1
MYO7A	99.96	1
NBAS	99.86	1
NDP	99.98	1
NEK2	95.09	1
NEUROD1	100.00	1
NMNAT1	99.93	1
NPHP1	99.05	1
NPHP3	99.89	1
NPHP4	99.98	1
NR2E3	100.00	1
NR2F1	99.99	1
NRL	100.00	1
NYX	100.00	1
OAT	90.17	1
OFD1	99.68	1
MED12	99.95	1
OPA3	100.00	1
OPN1LW	71.75	1
OPN1MW	30.23	1
OPN1SW	99.97	1
OTX2	100.00	1
PANK2	99.99	1
PAX2	99.99	1
PCARE	100.00	1
PCDH15	99.71	1
PCYT1A	100.00	1
PDE6A	99.98	1
PDE6B	100.00	1
PDE6C	99.91	1
PDE6G	100.00	1
PDE6H	99.97	1
PDZD7	98.09	1
PEX1	98.80	1
PEX2	100.00	1
PEX6	99.99	1
PEX7	99.72	1
PGK1	99.93	1
PHYH	100.00	1
PITPNM3	99.98	1
PLA2G5	99.91	1
PLK4	99.89	1
PNPLA6	99.99	1
POC1B	100.00	1
POC5	99.85	1
POMGNT1	99.69	1
PRCD	100.00	1
PRDM13	99.99	1
PROM1	99.97	1
PRPF3	99.73	1
PRPF31	99.99	1
PRPF4	99.96	1
PRPF6	99.98	1
PRPF8	99.98	1
PRPH2	99.98	1
PRPS1	99.95	1
RAB28	99.97	1
RAX2	100.00	1
RB1	99.84	1
RBP3	99.99	1
RBP4	99.99	1
RCBTB1	99.99	1
RD3	100.00	1
RDH11	99.99	1
RDH12	99.98	1
RDH5	100.00	1
REEP6	100.00	1
RGR	99.79	1
RGS9BP	100.00	1
RHO	100.00	1
RIMS1	99.85	1
RIMS2	99.97	1
RLBP1	99.99	1
ROM1	100.00	1
MAPRE2	99.98	1
RP1L1	100.00	1
RP2	99.58	1
RP9	99.83	1
RPE65	98.99	1
RPGR	94.45	1
RPGRIP1	99.95	1
RPGRIP1L	96.35	1
RS1	99.92	1
RTN4IP1	99.98	1
SAG	99.98	1
SAMD11	100.00	1
SAMD7	99.99	1
SCAPER	99.75	1
SCLT1	95.17	1
SDCCAG8	100.00	1
SEMA4A	99.81	1
SF3B2	99.98	1
SLC24A1	99.92	1
SLC25A46	99.88	1
SLC6A6	99.98	1
SLC7A14	99.99	1
SNRNP200	99.60	1
SPATA7	99.80	1
GPKOW	100.00	1
TEAD1	99.97	1
TIMM8A	100.00	1
TIMP3	100.00	1
TLR3	99.99	1
TLR4	99.99	1
TMEM126A	99.88	1
TMEM216	99.98	1
TMEM237	99.30	1
TOPORS	99.99	1
TREX1	100.00	1
TRIM32	100.00	1
TRNT1	99.97	1
TRPM1	99.96	1
TSPAN12	99.89	1
TTC8	99.67	1
TTLL5	99.95	1
TTPA	99.88	1
TUB	100.00	1
TUBGCP4	99.80	1
TUBGCP6	100.00	1
TULP1	99.99	1
UNC119	100.00	1
USH1C	99.99	1
USH1G	100.00	1
USH2A	99.88	1
VCAN	99.99	1
WDPCP	99.87	1
WDR19	99.80	1
WFS1	99.99	1
WHRN	99.96	1
ZNF408	99.99	1
ZNF423	98.94	1
ZNF513	99.97	1