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| Mendeliome v2.557 | SAMD11 | Zornitza Stark Marked gene: SAMD11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.557 | SAMD11 | Zornitza Stark Gene: samd11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.557 | SAMD11 |
Zornitza Stark gene: SAMD11 was added gene: SAMD11 was added to Mendeliome. Sources: Literature founder tags were added to gene: SAMD11. Mode of inheritance for gene: SAMD11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMD11 were set to 27734943 Phenotypes for gene: SAMD11 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: SAMD11 was set to RED Added comment: PMID 27734943 describes five individuals from two consanguineous families harbouring a homozygous nonsense SAMD11 p.Arg630* variant that segregates with adult-onset disease and is absent from population databases. SAMD11 is orthologue to the mouse major retinal SAM domain (mr-s) protein that is implicated in CRX-mediated transcriptional regulation in the retina. Sources: Literature |
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