Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: PRDM9

Green List (high evidence)

PRDM9 (PR/SET domain 9)
EnsemblGeneIds (GRCh38): ENSG00000164256
EnsemblGeneIds (GRCh37): ENSG00000164256
OMIM: 609760, Gene2Phenotype
PRDM9 is in 2 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals.

3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination.
Sources: Literature
Created: 5 Jan 2022, 6:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian insufficiency, no OMIM #

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited primary ovarian failure MONDO:0019852
OMIM
609760
Clinvar variants
Variants in PRDM9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRDM9 were changed from Premature ovarian insufficiency, no OMIM # to Inherited primary ovarian failure MONDO:0019852

5 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm9 has been classified as Green List (High Evidence).

5 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: prdm9 has been classified as Green List (High Evidence).

5 Jan 2022, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PRDM9 was added gene: PRDM9 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM9 were set to PMID: 34257419 Phenotypes for gene: PRDM9 were set to Premature ovarian insufficiency, no OMIM # Review for gene: PRDM9 was set to GREEN