Primary ovarian insufficiency
Gene: FANCMEnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 19 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment 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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- ?Premature ovarian failure 15, OMIM:618096
- OMIM
- 609644
- Clinvar variants
- Variants in FANCM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fancm has been classified as Green List (High Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: FANCM were changed from Premature ovarian failure to ?Premature ovarian failure 15, OMIM:618096
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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