Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: GDF9

Green List (high evidence)

GDF9 (growth differentiation factor 9)
EnsemblGeneIds (GRCh38): ENSG00000164404
EnsemblGeneIds (GRCh37): ENSG00000164404
OMIM: 601918, Gene2Phenotype
GDF9 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdf9 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GDF9 were set to 29044499; 8849725

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdf9 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14 MIM#618014

11 Dec 2020, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GDF9 were set to

11 Dec 2020, Gel status: 2

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

17 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gdf9 has been classified as Amber List (Moderate Evidence).

17 Jun 2020, Gel status: 3

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