Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: POLR3B
Primary amenorrhoea can be a prominent feature of the condition in affected females.
Sources: LiteratureCreated: 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
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
Gene: polr3b has been classified as Green List (High Evidence).
Gene: polr3b has been classified as Green List (High Evidence).
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