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  3. POLR2C
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Primary ovarian insufficiency

Gene: POLR2C

Amber List (moderate evidence)
POLR2C (RNA polymerase II subunit C)
EnsemblGeneIds (GRCh38): ENSG00000102978
EnsemblGeneIds (GRCh37): ENSG00000102978
OMIM: 180663, Gene2Phenotype
POLR2C is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 7 Dec 2021, 3:43 p.m. | Last Modified: 7 Dec 2021, 3:49 p.m.
Panel Version: 1.62
Created: 7 Dec 2021, 3:43 p.m.
Last Modified: 7 Dec 2021, 3:49 p.m.
Panel version: 1.62

Zornitza Stark (Australian Genomics)

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: 4 Dec 2021, 1:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Primary ovarian insufficiency

Publications

Created: 4 Dec 2021, 1:03 a.m.

Panel version: 1.60

Details

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

History Filter Activity

7 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

7 Dec 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: POLR2C.

4 Dec 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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