Brooke-Spiegler Syndrome(CYLD cutaneous syndrome)
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin 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 | CYLD/1540 | CYLD lysine 63 deubiquitinase | 16q12.1 | Chr16, NC_000016.10 (50742086..50801935) |
59850 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |