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| Infertility and Recurrent Pregnancy Loss v1.36 | ZSWIM7 |
Sangavi Sivagnanasundram changed review comment from: Established gene-disease association. Reported in unrelated individuals with either azoospermia or primary ovarian insufficiency Spermatogenic failure: PMID: 32719396 Homozygous males presenting with non-obstructive azoospermia c.201+1G>T - absent from gnomAD v4.1 c.231_232del;p.(Cys78Phefs*21) - FAF 0.04% PMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21) CRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest. Primary ovarian insufficiency (POI): 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; to: Established gene-disease association. Biallelic variants reported in unrelated individuals with either azoospermia or primary ovarian insufficiency Spermatogenic failure: PMID: 32719396 Homozygous males presenting with non-obstructive azoospermia c.201+1G>T - absent from gnomAD v4.1 c.231_232del;p.(Cys78Phefs*21) - FAF 0.04% PMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21) CRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest. Primary ovarian insufficiency (POI): 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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| Infertility and Recurrent Pregnancy Loss v1.36 | ZSWIM7 |
Sangavi Sivagnanasundram gene: ZSWIM7 was added gene: ZSWIM7 was added to Infertility and Recurrent Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ZSWIM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZSWIM7 were set to 32719396, 33713115, 40991243, 40991243 Phenotypes for gene: ZSWIM7 were set to Spermatogenic failure 71 MONDO:0030787; Ovarian dysgenesis 10 MONDO:0030736 Review for gene: ZSWIM7 was set to GREEN Added comment: Established gene-disease association. Reported in unrelated individuals with either azoospermia or primary ovarian insufficiency Spermatogenic failure: PMID: 32719396 Homozygous males presenting with non-obstructive azoospermia c.201+1G>T - absent from gnomAD v4.1 c.231_232del;p.(Cys78Phefs*21) - FAF 0.04% PMID: 33713115 - 2 unrelated Chinese males with non-obstructive azoospermia from consanguineous families presented with homozygous c.231_232del;p.(Cys78Phefs*21) CRISPR/Cas9 mouse model showed that in the mutant mice had smaller testes compared to their control littermates and no sperm in histological analysis recapitulating spermatogenic arrest. Primary ovarian insufficiency (POI): 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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