Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: GDF9EnsemblGeneIds (GRCh38): ENSG00000164404
EnsemblGeneIds (GRCh37): ENSG00000164404
OMIM: 601918, Gene2Phenotype
GDF9 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Premature ovarian failure 14 MIM#618014
- OMIM
- 601918
- Clinvar variants
- Variants in GDF9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gdf9 has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: GDF9 were set to 29044499; 8849725
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gdf9 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14 MIM#618014
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: GDF9 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: GDF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gdf9 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)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