Beckwith-Wiedemann Syndrome
An Autosomal dominant mode(s) within the Developmental / Cancer category
Candidate Gene Information
An Autosomal dominant mode(s) within the Developmental / Cancer category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CDKN1C/1028 | cyclin dependent kinase inhibitor 1C | 11p15.4 | Chr11, NC_000011.10 (2883218..2885775, complement) |
2558 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NSD1/64324 | nuclear receptor binding SET domain protein 1 | 5q35.3 | Chr5, NC_000005.10 (177131798..177300213) |
168416 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DNMT1/1786 | DNA methyltransferase 1 | 19p13.2 | Chr19, NC_000019.10 (10133346..10194953, complement) |
61608 nt | 41 | 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 |