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| Infertility and Recurrent Pregnancy Loss v1.36 | MDC1 | Zornitza Stark Marked gene: MDC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.36 | MDC1 | Zornitza Stark Gene: mdc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.36 | MDC1 | Zornitza Stark Classified gene: MDC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.36 | MDC1 | Zornitza Stark Gene: mdc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v1.32 | MDC1 |
Sarah Milton gene: MDC1 was added gene: MDC1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: MDC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDC1 were set to PMID: 40954969, 34089056 Phenotypes for gene: MDC1 were set to Oligoasthenoteratozoospermia, MONDO:0850098, MDC1-related Review for gene: MDC1 was set to AMBER Added comment: MDC1 encodes mediator of DNA damage checkpoint I protein. PMID: 40954969 describes 2 affected individuals with biallelic loss of function (nonsense and start loss) variants in MDC1 with reduced sperm count, abnormal morphology and poor motility. 1 family consanguineous. PMID: 34089056 describes 1 similarly affected individual with 2 loss of function variants not confirmed in trans. All adequately rare in gnomad v4. No homozygous NMD predicted variants in gnomad v4. Knockout mice models show meiotic arrest in spermatocytes which subsequently undergo apoptosis. Functional studies performed in PMID:40954969 showed lack of protein in affected patient cells and lack of colocalization usual partner protein. Didn't demonstrate conclusively loss of downstream function. Sources: Literature |
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