Cone Rod Dystrophy Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant 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 | 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 |
| 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: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |