Prader-willi 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 | MAGEL2/54551 | MAGE family member L2 | 15q11.2 | Chr15, NC_000015.10 (23643549..23647867, complement) |
4319 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | HERC2/8924 | HECT and RLD domain containing E3 ubiquitin protein ligase 2 | 15q13.1 | Chr15, NC_000015.10 (28111040..28322179, complement) |
211140 nt | 98 | 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 |