STRs in panel
Prev Next
Regions in panel
Prev Next

Infertility and Recurrent Pregnancy Loss

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 3 panels

1 review

Jasmine Chew (Other)

Green List (high evidence)

Literature in OMIM- PMID:24597873- compound heterozygous variants in a familial case and an unrelated individual with primary ovarian failure

New papers (single family with monoallelic variant and expansion of phenotypes in females)
i) PMID: 31279343- Novel heterozygous missense variant in HFM1 (c.3470G > A) in the proband and her mother both affected by POI. Minigene splicing assay of the WT and MT constructs revealed that an alternative splicing process were produced with the c.3470G > A variant in mRNA level.

ii) PMID: 35881270- novel compound heterozygous variants,c.1978-2A > C and c.2680 + 3_2680 + 4delAT, in two sisters with diminished ovarian reserve and recurrent pregnancy loss (RPL) in natural pregnancy and in vitro fertilization-embryo transfer (IVF-ET). Minigene assay showed that both variants could produce alternative transcripts compared to wild-type counterparts, which might result in protein dysfunction. These results demonstrated that RPL caused by the HFM1 gene might be inherited in AR mode,

iii) PMID: 36864181- novel homozygous splicing variant in HFM1 (NM_001017975.6: c.1730-1G > T) in two siblings - female with poor ovarian response and recurrent implantation failure and male with NOA. Minigene assay demonstrated that splicing variants caused abnormal alternative splicing of HFM1. For the sister, she experienced embryo arrest 9 weeks after pregnancy after undergoing 5 cycles of ART.

iv) PMID: 39929154- reported compound heterozygous variants c.1978-2A>C and c.2681-3T>A in a case of POI with unique genital characteristics; also their lit review showed that previous studies have linked HFM1 gene variants to clinical manifestations such as POI, diminished ovarian reserve, recurrent pregnancy loss, and poor outcomes in in vitro fertilization-embryo transfer.
Sources: Literature
Created: 4 Apr 2025, 6:47 a.m. | Last Modified: 4 Apr 2025, 6:50 a.m.
Panel Version: 0.25

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 9, MIM# 615724

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Premature ovarian failure 9, MIM# 615724
OMIM
615684
Clinvar variants
Variants in HFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hfm1 has been classified as Green List (High Evidence).

4 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hfm1 has been classified as Green List (High Evidence).

4 Apr 2025, Gel status: 0

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

Jasmine Chew (Other)

gene: HFM1 was added gene: HFM1 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: HFM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HFM1 were set to 24597873; 31279343; 35881270; 36864181; 39929154 Phenotypes for gene: HFM1 were set to Premature ovarian failure 9, MIM# 615724 Review for gene: HFM1 was set to GREEN