Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: GDF9
PMID: 33036707 - Additional compound het case with primary amenorrhea and was diagnosed with non-syndromic POI and supporting functional assays.Created: 11 Dec 2020, 2:55 a.m. | Last Modified: 11 Dec 2020, 2:55 a.m.
Panel Version: 0.100
Currently a single case with a homozygous variant and a null mouse model with ovarian failure.Created: 17 Jun 2020, 10:41 p.m. | Last Modified: 17 Jun 2020, 10:41 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure 14 MIM#618014
Publications
Gene: gdf9 has been classified as Green List (High Evidence).
Publications for gene: GDF9 were set to 29044499; 8849725
Gene: gdf9 has been classified as Green List (High Evidence).
Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14 MIM#618014
Publications for gene: GDF9 were set to
Mode of inheritance for gene: GDF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Gene: gdf9 has been classified as Amber List (Moderate Evidence).
gene: GDF9 was added gene: GDF9 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GDF9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted