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  2. Congenital hypothyroidism
  3. POLR2C
STRs in panel
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Congenital hypothyroidism

Gene: POLR2C

Red List (low 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). 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, 3:49 p.m.
Panel Version: 2.6
Created: 7 Dec 2021, 3:43 p.m.
Last Modified: 7 Dec 2021, 3:49 p.m.
Copied from panel: Primary ovarian insufficiency v1.62

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.

Copied from panel: Primary ovarian insufficiency v1.62

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • hypothyroidism, MONDO:0005420
OMIM
180663
Clinvar variants
Variants in POLR2C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Dec 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: POLR2C were changed from Primary ovarian insufficiency to hypothyroidism, MONDO:0005420

7 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: polr2c has been classified as Red List (Low Evidence).

7 Dec 2021, Gel status: 2

Removed Tag

Ivone Leong (Genomics England Curator)

Tag watchlist was removed from gene: POLR2C.

7 Dec 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: POLR2C was added gene: POLR2C was added to Congenital hypothyroidism. Sources: Expert Review Amber,Literature 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