Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: POLR3A
PMID: 25339210 - delayed puberty or primary amenorrhea was present in 27/33 patients with POLR3A (81%).
Sources: LiteratureCreated: 4 Oct 2020, 11:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694
Publications
Bi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.Created: 5 Apr 2020, 8:08 a.m. | Last Modified: 5 Apr 2020, 8:08 a.m.
Panel Version: 0.1979
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection
Gene: polr3a has been classified as Green List (High Evidence).
Gene: polr3a has been classified as Green List (High Evidence).
gene: POLR3A was added gene: POLR3A was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 25339210 Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694 Review for gene: POLR3A was set to GREEN