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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 | C17orf53 | Zornitza Stark Marked gene: C17orf53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 | C17orf53 | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is HROB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 | C17orf53 | Zornitza Stark Gene: c17orf53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 | C17orf53 | Zornitza Stark Tag new gene name tag was added to gene: C17orf53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.333 | C17orf53 | Zornitza Stark Phenotypes for gene: C17orf53 were changed from Primary ovarian insufficiency to Ovarian dysgenesis 11, MIM# 620897 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.332 | C17orf53 | Zornitza Stark Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.331 | C17orf53 | Zornitza Stark Classified gene: C17orf53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.331 | C17orf53 | Zornitza Stark Gene: c17orf53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.330 | C17orf53 | Zornitza Stark reviewed gene: C17orf53: Rating: GREEN; Mode of pathogenicity: None; Publications: 38105698; Phenotypes: Ovarian dysgenesis 11, MIM# 620897; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.306 | C17orf53 |
Elena Tucker commented on gene: C17orf53: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells. Additional publication describing a homozygous LOF variant in an individual with POI and corresponding sensitivity to DNA damage elevates confidence in the gene as a cause of POI: PMID: 36099812 |
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | C17orf53 | Zornitza Stark Marked gene: C17orf53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | C17orf53 | Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | C17orf53 | Zornitza Stark Classified gene: C17orf53 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.287 | C17orf53 | Zornitza Stark Gene: c17orf53 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.283 | C17orf53 |
Elena Tucker gene: C17orf53 was added gene: C17orf53 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C17orf53 were set to PMID: 34707299; PMID: 31467087 Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency Penetrance for gene: C17orf53 were set to Complete Review for gene: C17orf53 was set to AMBER Added comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells. Sources: Literature |
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