Primary ovarian insufficiency
Gene: FANCMComment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence for this gene to be rated Green.Created: 14 May 2021, 1:47 p.m. | Last Modified: 14 May 2021, 1:47 p.m.
Panel Version: 1.43
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.
Sources: LiteratureCreated: 7 Jan 2021, 8:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Premature ovarian failure
Publications
Gene: fancm has been classified as Green List (High Evidence).
Phenotypes for gene: FANCM were changed from Premature ovarian failure to ?Premature ovarian failure 15, OMIM:618096
gene: FANCM was added gene: FANCM was added to Primary ovarian insufficiency. Sources: Literature Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCM were set to 30075111; 29895858; 28837162 Phenotypes for gene: FANCM were set to Premature ovarian failure Review for gene: FANCM was set to GREEN