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| 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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| Mendeliome v2.0 | CRX | Gene migrated from ENSG00000105392 to ENSG00000105392 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13735 | CRX | Ain Roesley Marked gene: CRX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13735 | CRX | Ain Roesley Gene: crx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13735 | CRX | Ain Roesley Phenotypes for gene: CRX were changed from to Leber congenital amaurosis 7, MIM# 613829; Cone-rod retinal dystrophy-2 MIM#120970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13734 | CRX | Ain Roesley Publications for gene: CRX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13734 | CRX | Ain Roesley Mode of inheritance for gene: CRX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.13733 | CRX | Ain Roesley reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 12208271, 9931337, 9537410, 29568065, 27427859, 25270190, 32927963, 33910785; Phenotypes: Leber congenital amaurosis 7, MIM# 613829, Cone-rod retinal dystrophy-2 MIM#120970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | CRX |
Zornitza Stark gene: CRX was added gene: CRX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CRX was set to Unknown |
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