Primary ovarian insufficiency
Gene: POLR3HComment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in Gene2Phenotype and it is not present in OMIM. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 7 Dec 2021, 12:47 p.m. | Last Modified: 7 Dec 2021, 12:47 p.m.
Panel Version: 1.61
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: Expert ReviewCreated: 4 Dec 2021, 2:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency
Publications
Tag watchlist tag was added to gene: POLR3H.
Gene: polr3h has been classified as Amber List (Moderate Evidence).
gene: POLR3H was added gene: POLR3H was added to Primary ovarian insufficiency. Sources: Expert Review 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