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| Mendeliome v2.136 | TAF7L | Zornitza Stark edited their review of gene: TAF7L: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.136 | TAF7L | Zornitza Stark Marked gene: TAF7L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.136 | TAF7L | Zornitza Stark Gene: taf7l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.136 | TAF7L | Zornitza Stark Mode of inheritance for gene: TAF7L was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.135 | TAF7L | Zornitza Stark Classified gene: TAF7L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.135 | TAF7L | Zornitza Stark Gene: taf7l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.134 | TAF7L |
Zornitza Stark gene: TAF7L was added gene: TAF7L was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TAF7L was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TAF7L were set to 38511217; 36714566; 35554494 Phenotypes for gene: TAF7L were set to Infertility disorder, MONDO:0005047, TAF7L-related Review for gene: TAF7L was set to AMBER Added comment: PMID 35554494, PMID 38511217 and PMID 36714566 report at least 5 independent families with X‑linked hemizygous variants in TAF7L in association with severe oligoasthenoteratozoospermia (male infertility). Some of the variants are present in the population, others have not been segregated and a knock-in of one of the variants did not impair fertility, hence Amber rating for now. Sources: Literature |
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