Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: CLPB
PMID: 36074910
Affected individuals that survive beyond puberty experience premature ovarian insufficiency
Sources: LiteratureCreated: 19 Sep 2022, 4:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction
Publications
Gene: clpb has been classified as Green List (High Evidence).
Phenotypes for gene: CLPB were changed from syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271; syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction
Gene: clpb has been classified as Green List (High Evidence).
gene: CLPB was added gene: CLPB was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 36074910 Phenotypes for gene: CLPB were set to syndromic premature ovarian insufficiency; neutropenia; cataracts; 3-methylglutaconic aciduria; neurological dysfunction Review for gene: CLPB was set to GREEN