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| Primary ovarian insufficiency v1.57 | C14orf39 | Ivone Leong Classified gene: C14orf39 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.57 | C14orf39 | Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. There is now enough evidence to support a gene-disease association (2 cases + 1 animal model). This gene has been promoted to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.57 | C14orf39 | Ivone Leong Gene: c14orf39 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.56 | C14orf39 | Ivone Leong Publications for gene: C14orf39 were set to 33508233; 27796301 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.55 | C14orf39 | Andrey Gagunashvili reviewed gene: C14orf39: Rating: ; Mode of pathogenicity: None; Publications: 34718620; Phenotypes: Premature ovarian failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.25 | C14orf39 | Ivone Leong Classified gene: C14orf39 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.25 | C14orf39 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.25 | C14orf39 | Ivone Leong Gene: c14orf39 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.24 | C14orf39 | Ivone Leong Phenotypes for gene: C14orf39 were changed from Premature ovarian insufficiency to ?Premature ovarian failure 18, OMIM:619203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.19 | C14orf39 |
Zornitza Stark gene: C14orf39 was added gene: C14orf39 was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C14orf39 were set to 33508233; 27796301 Phenotypes for gene: C14orf39 were set to Premature ovarian insufficiency Review for gene: C14orf39 was set to AMBER Added comment: PMID: 33508233 - 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC PMID: 27796301 - Mouse K/O with ovarian failure Sources: Literature |
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