Exudative Vitreoretinopathy 1(Criswick-Schepens syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Eye disorders category
Candidate Gene Information
An Autosomal 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 | FZD4/8322 | frizzled class receptor 4 | 11q14.2 | Chr11, NC_000011.10 (86945679..86955395, complement) |
9717 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CTNNB1/1499 | catenin beta 1 | 3p22.1 | Chr3, NC_000003.12 (41199505..41240443) |
40939 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | LRP5/4041 | LDL receptor related protein 5 | 11q13.2 | Chr11, NC_000011.10 (68298412..68449275) |
150864 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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