| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Intellectual disability syndromic and non-syndromic v2.1 | SNORD116-1 |
Boris Keren gene: SNORD116-1 was added gene: SNORD116-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: SNORD116-1 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: SNORD116-1 were set to PMID: 24916642 Phenotypes for gene: SNORD116-1 were set to Intellectual disability, obesity, hypotonia Penetrance for gene: SNORD116-1 were set to Complete Mode of pathogenicity for gene: SNORD116-1 was set to Other Review for gene: SNORD116-1 was set to GREEN gene: SNORD116-1 was marked as current diagnostic Added comment: The paternal deletion of the SNORD166 cluster is the critical region of Prader Willi syndrome. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||