Rubinstein-Taybi Syndrome Due To CREBBP Mutations(Broad thumbs and great toes, characteristic facies, and mental retardation)
An Autosomal dominant mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Multisystemic 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 | CREBBP/1387 | CREB binding protein | 16p13.3 | Chr16, NC_000016.10 (3725054..3880713, complement) |
155660 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | EP300/2033 | E1A binding protein p300 | 22q13.2 | Chr22, NC_000022.11 (41092592..41180077) |
87486 nt | 31 | 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