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| Primary ovarian insufficiency v1.62 | POLR2C | Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5).; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5). There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.62 | POLR2C | Ivone Leong Classified gene: POLR2C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.62 | POLR2C | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. The affected patients in PMID: 29367954 also had hypothyroidism (3/5), thrombocytopenia (2/5) and pernicious anaemia (2/5). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.62 | POLR2C | Ivone Leong Gene: polr2c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.61 | POLR2C | Ivone Leong Tag watchlist tag was added to gene: POLR2C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ovarian insufficiency v1.60 | POLR2C |
Zornitza Stark gene: POLR2C was added gene: POLR2C was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR2C were set to 34794894; 29367954 Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency Review for gene: POLR2C was set to AMBER Added comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation. Two missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1). Sources: Literature |
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