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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.381 | PMM2 |
Chirag Patel Source NHS GMS was removed from PMM2. Source Expert List was added to PMM2. Phenotypes for gene: PMM2 were changed from Congenital disorder of glycosylation, type Ia 212065 to Primary ovarian failure, MONDO:0005387; Congenital disorder of glycosylation, type Ia 212065 Publications for gene PMM2 were changed from 20301289, 31902100, 25497157, 33583911 to 20301289, 31902100, 25497157, 33583911 |
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.380 | PMM2 | Chirag Patel reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301289, 31902100, 25497157, 33583911; Phenotypes: Primary ovarian failure, MONDO:0005387, Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.0 | PMM2 |
Bryony Thompson gene: PMM2 was added gene: PMM2 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065 |
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