Koolen-de Vries Syndrome(KANSL1-related intellectual disability syndrome)
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental 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 | KANSL1/284058 | KAT8 regulatory NSL complex subunit 1 | 17q21.31 | Chr17, NC_000017.11 (46029916..46225367, complement) |
195452 nt | 22 | 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