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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. HFM1
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: HFM1

Green List (high evidence)
HFM1 (HFM1, ATP dependent DNA helicase homolog)
EnsemblGeneIds (GRCh38): ENSG00000162669
EnsemblGeneIds (GRCh37): ENSG00000162669
OMIM: 615684, Gene2Phenotype
HFM1 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Three cases from 2 unrelated families with compound heterozygous variants, and a single family with a heterozygous variant have been reported with ovarian failure. There is also a supporting null mouse model.
Created: 17 Jun 2020, 11:07 p.m. | Last Modified: 17 Jun 2020, 11:07 p.m.
Panel Version: 0.2

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 9 MIM#615724

Publications

Created: 17 Jun 2020, 11:07 p.m.
Last Modified: 17 Jun 2020, 11:07 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Premature ovarian failure 9,615724
OMIM
615684
Clinvar variants
Variants in HFM1
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: hfm1 has been classified as Green List (High Evidence).

11 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: HFM1 were set to

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HFM1 was added gene: HFM1 was added to Amenorrhoea. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HFM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFM1 were set to Premature ovarian failure 9,615724