Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: GATA4

Amber List (moderate evidence)

GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

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: Literature
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency
  • congenital heart defect
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gata4 has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gata4 has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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