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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | ZSWIM7 | Zornitza Stark Marked gene: ZSWIM7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | ZSWIM7 | Zornitza Stark Gene: zswim7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.386 | ZSWIM7 | Zornitza Stark Publications for gene: ZSWIM7 were set to 40991243, 34402903 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.364 | ZSWIM7 | Chirag Patel Classified gene: ZSWIM7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.364 | ZSWIM7 | Chirag Patel Gene: zswim7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.363 | ZSWIM7 |
Chirag Patel gene: ZSWIM7 was added gene: ZSWIM7 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSWIM7 were set to 40991243, 34402903 Phenotypes for gene: ZSWIM7 were set to Primary ovarian failure, MONDO:0005387 Review for gene: ZSWIM7 was set to GREEN Added comment: PMID: 40991243 Four french individuals with a diagnosis of premature ovarian insufficiency (POI) identified with variants in ZSWIM7 Patient 1: Homozygous deletion c.231_232del Patient 2: Compound het c.231_232del;c.22del (p.Val8LeufsTer6) Patient 3: Compound het c.231_232del; c.151C>T (NFE AF 0.002%) Paitent 4: Homozygous c.176C>T p.(Arg51Ter) PMID: 40991243 Two sisters from a consanguineous pedigree presented in adolescence with absent puberty and primary amenorrhea Both sisters homozygous for c.173G>C and unaffected mother heterozygous for the variant Sources: Literature |
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