Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FANCM

FANCM (Fanconi anemia complementation group M)
EnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 11 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

2 Finnish sisters with non-syndromic POI with a homozygous mutation (p.Gln1701*), and supporting functional assays. 1 case with 2 truncating variants (phase unknown) and non-syndromic POI and MMC chromosome-induced breakage. 3/5 women with homozygous truncating variants and breast cancer also reported early menopause or ovarian insufficiency. Null mouse model demonstrates significant reduction in ovarian follicles.
Created: 11 Dec 2020, 2:46 a.m. | Last Modified: 11 Dec 2020, 2:46 a.m.

Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Premature ovarian failure 15 MIM#618096

Publications

Created: 11 Dec 2020, 2:46 a.m.
Last Modified: 11 Dec 2020, 2:46 a.m.
Panel version: 0.96

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two families and a mouse model. Note the association with Fanconi anaemia has been REFUTED.
Created: 23 Jul 2020, 11:55 p.m. | Last Modified: 23 Jul 2020, 11:55 p.m.

Panel Version: 0.3489

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spermatogenic failure 28, MIM# 618086

Publications

Created: 23 Jul 2020, 11:55 p.m.
Last Modified: 23 Jul 2020, 11:55 p.m.
Panel version: Imported from Mendeliome panel version 0.3489

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genetic Health QLD
Victorian Clinical Genetics Services

Phenotypes

Premature ovarian failure 15 MIM#618096

OMIM

609644

Clinvar variants

Variants in FANCM

Penetrance

None

Publications

Panels with this gene