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| Mendeliome v1.4029 | SMC1B | Zornitza Stark Marked gene: SMC1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4029 | SMC1B | Zornitza Stark Gene: smc1b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4029 | SMC1B |
Zornitza Stark gene: SMC1B was added gene: SMC1B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SMC1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SMC1B were set to 40180776; 27603904 Phenotypes for gene: SMC1B were set to Infertility disorder, MONDO:0005047, SMC1B-related Review for gene: SMC1B was set to RED Added comment: [PMID 27603904] reports 2 individuals from 2 families with heterozygous missense SMC1B variants (p.I221T, p.Q1177L) presenting with primary ovarian insufficiency. [PMID 40180776] reports 1 individual from 1 family with a heterozygous missense p.C619F variant causing severe necrozoospermia; the variant segregates from a carrier mother and functional assays show reduced SMC1B protein, indicating a loss‑of‑function mechanism. All three variants are present in the population, p.Q1177L at an implausibly high frequency. Sources: Literature |
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