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| Mendeliome v1.4075 | SPAG17 | Zornitza Stark Publications for gene: SPAG17 were set to 28548327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4074 | SPAG17 | Zornitza Stark Classified gene: SPAG17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4074 | SPAG17 | Zornitza Stark Gene: spag17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4073 | SPAG17 | Zornitza Stark edited their review of gene: SPAG17: Added comment: Recent studies (PMIDs 28548327, 39686771, 40330001 and supporting mouse data in PMID 29690537) expand SPAG17‑associated male infertility to four unrelated families (seven affected individuals) with biallelic loss‑of‑function variants causing severe asthenozoospermia, multiple morphological abnormalities of the flagella (MMAF) or oligoasthenoteratozoospermia. Detailed semen analyses, sperm ultrastructure, immunofluorescence, Western blot, qPCR and TEM demonstrate loss of SPAG17 protein and axonemal defects, while a Spag17 knockout mouse recapitulates the infertility phenotype.; Changed rating: GREEN; Changed publications: 40330001, 39686771, 28548327 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8059 | SPAG17 | Zornitza Stark Marked gene: SPAG17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8059 | SPAG17 | Zornitza Stark Gene: spag17 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.8059 | SPAG17 |
Zornitza Stark gene: SPAG17 was added gene: SPAG17 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SPAG17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG17 were set to 28548327 Phenotypes for gene: SPAG17 were set to Spermatogenic failure 55, MIM#619380 Review for gene: SPAG17 was set to RED Added comment: Single family reported with two affected brothers, homozygous missense variant. Sources: Literature |
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