Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FANCM

Green List (high evidence)

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

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

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

History Filter Activity

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Dec 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FANCM were changed from to Premature ovarian failure 15 MIM#618096

11 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FANCM were set to

11 Dec 2020, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

11 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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