Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: PRDM1
PRDM1 (PR/SET domain 1)
EnsemblGeneIds (GRCh38): ENSG00000057657
EnsemblGeneIds (GRCh37): ENSG00000057657
OMIM: 603423, Gene2Phenotype
PRDM1 is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000057657
EnsemblGeneIds (GRCh37): ENSG00000057657
OMIM: 603423, Gene2Phenotype
PRDM1 is in 1 panel
1 review
Bryony Thompson (Royal Melbourne Hospital)
Single case heterozygous for a missense variant (c.1250C>G:p.P417R) with delayed puberty, congenital heart defect, café-au-lait spots, high arched palate, cubitus valgus, and hyperdontia.
Sources: LiteratureCreated: 29 Nov 2021, 12:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Primary ovarian insufficiency
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Primary ovarian insufficiency
- OMIM
- 603423
- Clinvar variants
- Variants in PRDM1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
29 Nov 2021, Gel status: 1
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: prdm1 has been classified as Red List (Low Evidence).
29 Nov 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PRDM1 was added gene: PRDM1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: PRDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM1 were set to 34794894; 33095795 Phenotypes for gene: PRDM1 were set to Primary ovarian insufficiency Review for gene: PRDM1 was set to RED