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| Mendeliome v2.346 | SPMIP10 | Zornitza Stark Marked gene: SPMIP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.346 | SPMIP10 | Zornitza Stark Gene: spmip10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.106 | SPMIP10 |
Lucy Spencer gene: SPMIP10 was added gene: SPMIP10 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPMIP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPMIP10 were set to 42174372 Phenotypes for gene: SPMIP10 were set to Spermatogenic failure, MONDO:0004983, SPMIP10-related Review for gene: SPMIP10 was set to RED Added comment: PMID: 42174372 - using the gene name alias TEX43. Identified 5 individuals with asthenoteratozoospermia and variants in TEX43 (SPMIP10) . This included one missense Arg37Gln (47 hets in gnomad v4), a variant in the 5'UTR c.-23T>A (>13,000 homs in gnomad) and 2 intronic variants c.86+141G > A and c.196-25C>T (>8000 homs in gnomad). The intronic and UTR variants were observed in different combinations in 4 patients, while the missense variant was observed in one patient and by itself. Sources: Literature |
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