Cytopenias and congenital anaemias
Gene: POLR2CComment 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). The entries in ClinVar did not mention any other phenotype. So therefore this gene has been given a Red rating.Created: 7 Dec 2021, 3:43 p.m. | Last Modified: 7 Dec 2021, 3:48 p.m.
Panel Version: 1.89
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: LiteratureCreated: 4 Dec 2021, 1:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Phenotypes for gene: POLR2C were changed from thrombocytopenia, to thrombocytopenia, MONDO:0002049
Phenotypes for gene: POLR2C were changed from thrombocytopenia, to thrombocytopenia,
Phenotypes for gene: POLR2C were changed from Primary ovarian insufficiency to thrombocytopenia,
Gene: polr2c has been classified as Red List (Low Evidence).
Tag watchlist was removed from gene: POLR2C.
gene: POLR2C was added gene: POLR2C was added to Cytopenias and congenital anaemias. Sources: Literature,Expert Review Amber watchlist tags were added to gene: POLR2C. 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