| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 | GATA4 | Bryony Thompson Marked gene: GATA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 | GATA4 | Bryony Thompson Gene: gata4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 | GATA4 | Bryony Thompson Classified gene: GATA4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.214 | GATA4 | Bryony Thompson Gene: gata4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.213 | GATA4 |
Bryony Thompson 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 Added comment: 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 |
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