Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: POLR3HEnsemblGeneIds (GRCh38): ENSG00000100413
EnsemblGeneIds (GRCh37): ENSG00000100413
POLR3H is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation.
Sources: LiteratureCreated: 26 Nov 2021, 3:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Primary ovarian insufficiency
- Clinvar variants
- Variants in POLR3H
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: polr3h has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: polr3h has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POLR3H was added gene: POLR3H was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3H were set to 34794894; 30830215 Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency Review for gene: POLR3H was set to AMBER