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| Mendeliome v0.6009 | RABL2A | Zornitza Stark Marked gene: RABL2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6009 | RABL2A | Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6009 | RABL2A | Zornitza Stark Publications for gene: RABL2A were set to 33075816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6008 | RABL2A | Zornitza Stark Mode of inheritance for gene: RABL2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6007 | RABL2A | Zornitza Stark Classified gene: RABL2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6007 | RABL2A | Zornitza Stark Gene: rabl2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6006 | RABL2A | Zornitza Stark reviewed gene: RABL2A: Rating: RED; Mode of pathogenicity: None; Publications: 24825419; Phenotypes: Male infertility; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.6002 | RABL2A |
Eleanor Williams gene: RABL2A was added gene: RABL2A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RABL2A was set to Unknown Publications for gene: RABL2A were set to 33075816 Phenotypes for gene: RABL2A were set to male infertility; ciliopathy Review for gene: RABL2A was set to RED Added comment: PMID: 33075816 - Ding et al 2020 - with the aim of identifying variants that affect male fertility, the authors report on mice expressing two RABL2A SNPs found to be rare (MAF between 2% and 0.02% in gnomAD, with a deleterious prediction from SIFT and PolyPhen-2, and to affect protein stability. Mice homozygous for these variants (p.L119F and p.V158F) were found to be show ciliopathy-associated disorders including male infertility, early growth retardation, excessive weight gain in adulthood, heterotaxia, pre-axial polydactyly, neural tube defects and hydrocephalus. Sources: Literature |
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