Angelman Syndrome(Happy puppet syndrome) Explore Disorder's Alias
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 Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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