Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: POLR2C

Amber List (moderate evidence)

POLR2C (RNA polymerase II subunit C)
EnsemblGeneIds (GRCh38): ENSG00000102978
EnsemblGeneIds (GRCh37): ENSG00000102978
OMIM: 180663, Gene2Phenotype
POLR2C is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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
Created: 26 Nov 2021, 3:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
OMIM
180663
Clinvar variants
Variants in POLR2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polr2c has been classified as Amber List (Moderate Evidence).

26 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polr2c has been classified as Amber List (Moderate Evidence).

26 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: POLR2C was added gene: POLR2C was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. 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