Severe Early-childhood-onset Retinal Dystrophy(Stargardt disease 1) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Eye disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CNGB3/54714 | cyclic nucleotide gated channel subunit beta 3 | 8q21.3 | Chr8, NC_000008.11 (86574179..86743634, complement) |
169456 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ABCA4/24 | ATP binding cassette subfamily A member 4 | 1p22.1 | Chr1, NC_000001.11 (93992834..94121148, complement) |
128315 nt | 50 | 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 | ||||||||
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Clinical Symptoms & Disabilities