Angelman Syndrome(Happy puppet 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 | UBE3A/7337 | ubiquitin protein ligase E3A | 15q11.2 | Chr15, NC_000015.10 (25333728..25439056, complement) |
105329 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MECP2/4204 | methyl-CpG binding protein 2 | Xq28 | ChrX, NC_000023.11 (154021573..154097717, complement) |
76145 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | CDKL5/6792 | cyclin dependent kinase like 5 | Xp22.13 | ChrX, NC_000023.11 (18425608..18653629) |
228022 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | HIVEP2/3097 | HIVEP zinc finger 2 | 6q24.2 | Chr6, NC_000006.12 (142751469..142946365, complement) |
194897 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | GABRG3/2567 | gamma-aminobutyric acid type A receptor subunit gamma3 | 15q12 | Chr15, NC_000015.10 (26971181..27541984) |
570804 nt | 10 | 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 |