Cockayne Syndrome
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodegenerative 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 | ERCC6/2074 | ERCC excision repair 6, chromatin remodeling factor | 10q11.23 | Chr10, NC_000010.11 (49434881..49539538, complement) |
104658 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ERCC8/1161 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 5q12.1 | Chr5, NC_000005.10 (60866454..60945070, complement) |
78617 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | ERCC4/2072 | ERCC excision repair 4, endonuclease catalytic subunit | 16p13.12 | Chr16, NC_000016.10 (13920154..13952348) |
32195 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |