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 | 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 |
| 2 | IPW/3653 | imprinted in Prader-Willi syndrome | Chr15, NC_000015.10 (25116545..25122476) |
5932 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
|
| 3 | 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 |
| 4 | MKRN3/7681 | makorin ring finger protein 3 | 15q11.2 | Chr15, NC_000015.10 (23565674..23568044) |
2371 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SNORD115-1/338433 | small nucleolar RNA, C/D box 115-1 | Chr15, NC_000015.10 (25170723..25170804) |
82 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
|
| 6 | SNRPN/6638 | small nuclear ribonucleoprotein polypeptide N | 15q11.2 | Chr15, NC_000015.10 (24823637..24978723) |
155087 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | NPAP1/23742 | nuclear pore associated protein 1 | 15q11.2 | Chr15, NC_000015.10 (24675775..24683393) |
7619 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | PWAR1/145624 | Prader Willi/Angelman region RNA 1 | Chr15, NC_000015.10 (25135642..25138053) |
2412 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
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| 9 | PWRN1/791114 | Prader-Willi region non-protein coding RNA 1 | Chr15, NC_000015.10 (24558157..24587780) |
29624 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
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| 10 | SNORD116-1/100033413 | small nucleolar RNA, C/D box 116-1 | Chr15, NC_000015.10 (25051476..25051572) |
97 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
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| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||