Primary ovarian insufficiency
Gene: HFM1
Multiple patients cited in literature with POICreated: 9 Jun 2017, 3:10 p.m.
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
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.
Promoting to Version 1 on 31-05-2017, after internal curation and review.
This gene has been classified as Green List (High Evidence).
Publications for HFM1 were set to 24597873; 26679638
This gene has been classified as Green List (High Evidence).
HFM1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other
HFM1 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen
HFM1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list
HFM1 was created by ellenmcdonagh