GenTIGS

Lists of Rare Genetic Disorders

Leber Congenital Amaurosis Explore Disorder's Alias
An Autosomal recessive mode(s) within the Eye disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	LCA5/167691	lebercilin LCA5	6q14.1	Chr6, NC_000006.12 (79484991..79538782, complement)	53792 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	CEP290/80184	centrosomal protein 290	12q21.32	Chr12, NC_000012.12 (88049016..88142088, complement)	93073 nt	60	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	SPATA7/55812	spermatogenesis associated 7	14q31.3	Chr14, NC_000014.9 (88385657..88470350)	84694 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	RDH12/145226	retinol dehydrogenase 12	14q24.1	Chr14, NC_000014.9 (67701886..67734451)	32566 nt	9	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	RPGRIP1/57096	RPGR interacting protein 1	14q11.2	Chr14, NC_000014.9 (21280083..21351301)	71219 nt	26	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	AIPL1/23746	aryl hydrocarbon receptor interacting protein like 1	17p13.2	Chr17, NC_000017.11 (6423738..6435121, complement)	11384 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	CRB1/23418	crumbs cell polarity complex component 1	1q31.3	Chr1, NC_000001.11 (197201504..197478455)	276952 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	CRX/1406	cone-rod homeobox	19q13.33	Chr19, NC_000019.10 (47821937..47843324)	21388 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	GUCY2D/3000	guanylate cyclase 2D, retinal	17p13.1	Chr17, NC_000017.11 (8002615..8020342)	17728 nt	20	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	RPE65/6121	retinoid isomerohydrolase RPE65	1p31.3	Chr1, NC_000001.11 (68428822..68449954, complement)	21133 nt	14	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	RD3/343035	RD3 regulator of GUCY2D	1q32.3	Chr1, NC_000001.11 (211476522..211492162, complement)	15641 nt	3	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	IMPDH1/3614	inosine monophosphate dehydrogenase 1	7q32.1	Chr7, NC_000007.14 (128392277..128409982, complement)	17706 nt	18	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	TULP1/7287	TUB like protein 1	6p21.31	Chr6, NC_000006.12 (35497874..35512896, complement)	15023 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	KCNJ13/3769	potassium inwardly rectifying channel subfamily J member 13	2q37.1	Chr2, NC_000002.12 (232765802..232776565, complement)	10764 nt	3	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	NMNAT1/64802	nicotinamide nucleotide adenylyltransferase 1	1p36.22	Chr1, NC_000001.11 (9942923..9996892)	53970 nt	9	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	GDF6/392255	growth differentiation factor 6	8q22.1	Chr8, NC_000008.11 (96142333..96160806, complement)	18474 nt	2	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	RIMS1/22999	regulating synaptic membrane exocytosis 1	6q13	Chr6, NC_000006.12 (71886550..72403145)	516596 nt	42	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	NPHP1/4867	nephrocystin 1	2q13	Chr2, NC_000002.12 (110123348..110205013, complement)	81666 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	LRAT/9227	lecithin retinol acyltransferase	4q32.1	Chr4, NC_000004.12 (154740838..154753120)	12283 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	PDE6A/5145	phosphodiesterase 6A	5q32	Chr5, NC_000005.10 (149857953..149944793, complement)	86841 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	AHI1/54806	Abelson helper integration site 1	6q23.3	Chr6, NC_000006.12 (135283532..135497740, complement)	214209 nt	36	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	RP2/6102	RP2 activator of ARL3 GTPase	Xp11.3	ChrX, NC_000023.11 (46837043..46882358)	45316 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
23	IQCB1/9657	IQ motif containing B1	3q13.33	Chr3, NC_000003.12 (121769761..121835060, complement)	65300 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
24	TUBB4B/10383	tubulin beta 4B class IVb	9q34.3	Chr9, NC_000009.12 (137241287..137243707)	2421 nt	4	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
25	USP45/85015	ubiquitin specific peptidase 45	6q16.2	Chr6, NC_000006.12 (99432325..99517846, complement)	85522 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
26	PROM1/8842	prominin 1	4p15.32	Chr4, NC_000004.12 (15968228..16084023, complement)	115796 nt	34	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
27	INPP5E/56623	inositol polyphosphate-5-phosphatase E	9q34.3	Chr9, NC_000009.12 (136428619..136439845, complement)	11227 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
28	CFAP410/755	cilia and flagella associated protein 410	21q22.3	Chr21, NC_000021.9 (44328944..44339390, complement)	10447 nt	9	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
29	ALMS1/7840	ALMS1 centrosome and basal body associated protein	2p13.1	Chr2, NC_000002.12 (73385758..73609919)	224162 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
30	RPGRIP1L/23322	RPGRIP1 like	16q12.2	Chr16, NC_000016.10 (53598153..53703859, complement)	105707 nt	36	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development