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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. POLR3B
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: POLR3B

Green List (high evidence)
POLR3B (RNA polymerase III subunit B)
EnsemblGeneIds (GRCh38): ENSG00000013503
EnsemblGeneIds (GRCh37): ENSG00000013503
OMIM: 614366, Gene2Phenotype
POLR3B is in 15 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Primary amenorrhoea can be a prominent feature of the condition in affected females.
Sources: Literature
Created: 4 Oct 2020, 11:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381

Publications

Created: 4 Oct 2020, 11:46 p.m.

Panel version: 0.41

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is a presenting feature.
Created: 17 Apr 2020, 2:48 a.m. | Last Modified: 17 Apr 2020, 2:48 a.m.
Panel Version: 0.170

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381

Publications

Created: 17 Apr 2020, 2:48 a.m.
Last Modified: 17 Apr 2020, 2:48 a.m.
Panel version: Imported from Mendeliome panel version Imported from Ataxia - paediatric panel version 0.170

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381
OMIM
614366
Clinvar variants
Variants in POLR3B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polr3b has been classified as Green List (High Evidence).

4 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polr3b has been classified as Green List (High Evidence).

4 Oct 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: POLR3B was added gene: POLR3B was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3B were set to 25339210; 27512013; 26113998 Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 Review for gene: POLR3B was set to GREEN