Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: GATA4
One woman with a homozygous missense (p.Pro407Arg) and POI, sensorineural deafness, congenital heart defect, and kidney insufficiency. Another woman with a heterozygous missense variant (p.Ala94Thr) with secondary amenorrhea (but no mention of congenital heart defects). Also, supporting mouse models for a role for GATA4 in ovarian development.
Sources: LiteratureCreated: 28 Nov 2021, 10:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Primary ovarian insufficiency; congenital heart defect
Publications
Gene: gata4 has been classified as Amber List (Moderate Evidence).
Gene: gata4 has been classified as Amber List (Moderate Evidence).
gene: GATA4 was added gene: GATA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: GATA4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GATA4 were set to 34794894; 33095795; 29544631 Phenotypes for gene: GATA4 were set to Primary ovarian insufficiency; congenital heart defect Review for gene: GATA4 was set to AMBER