Primary Ovarian Insufficiency_Premature Ovarian Failure
Gene: FANCM
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
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
Gene: fancm has been classified as Green List (High Evidence).
Phenotypes for gene: FANCM were changed from to Premature ovarian failure 15 MIM#618096
Publications for gene: FANCM were set to
Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: fancm has been classified as Green List (High Evidence).
gene: FANCM was added gene: FANCM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD Mode of inheritance for gene: FANCM was set to Unknown