Primary ovarian insufficiency
Gene: HFM1EnsemblGeneIds (GRCh38): ENSG00000162669
EnsemblGeneIds (GRCh37): ENSG00000162669
OMIM: 615684, Gene2Phenotype
HFM1 is in 1 panel
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Multiple patients cited in literature with POICreated: 9 Jun 2017, 3:10 p.m.
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green as associated with the phenotype in OMIM and the mouse model has the phenotypeCreated: 22 May 2017, 9:41 a.m.
Phenotype associated in OMIM. Compound heterozygous mutations described in two Chinese sisters with POI, and in another unrelated affected patient.Created: 10 May 2017, 12:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure 9, 615724
Publications
Ellen McDonagh (Genomics England Curator)
This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.Created: 13 Jun 2016, 2:39 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- premature ovarian failure
- Premature ovarian failure 9,615724
- OMIM
- 615684
- Clinvar variants
- Variants in HFM1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoting to Version 1 on 31-05-2017, after internal curation and review.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Arianna Tucci (Genomics England Curator)Publications for HFM1 were set to 24597873; 26679638
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HFM1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)HFM1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)HFM1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)HFM1 was created by ellenmcdonagh