Childhood solid tumours
Gene: FANCMEnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 19 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Changed rating of FANCM from Green to Red based on 2009 evidence that reclassifies earlier (2005) FA-M patient as FA-A.Created: 28 Feb 2017, 2:04 p.m.
Further evidence that FANCM is not a Fanconi Anaemia gene comes from PMID:25078778: in a large exome-sequencing study and study of hospital records Lim et al., 2014 (PMID:25078778) did NOT find evidence to support FANCM as a gene associated with Fanconi Anaemia.Created: 28 Feb 2017, 2:02 p.m.
FANCM was named as a Fanconi anemia gene based on Meetei et al., 2005 (PMID:16116422) who identified FANCM compound heterozygous variants in a cell line derived from a patient (EUFA867) with FA. They report that the patient's brother (also suffering from FA) carried the identical mutations in his blood DNA.
However, Singh et al., 2009 (PMID:19423727) found that patient EUFA867 also carries biallelic mutations in FANCA. Singh also noted that the FA-affected brother of EUFA867 carried the same biallelic FANCA variants, but only carried one of the FANCM variants, and thus they reclassified the sibling as being an FA-A patient.Created: 28 Feb 2017, 2:02 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi anemia, complementation group M, 614087
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 609644
- Clinvar variants
- Variants in FANCM
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Severe microcephaly
- Primary ovarian insufficiency
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
History Filter Activity
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for FANCM were set to 16116422; 19423727; 25078778
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCM was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCM was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)FANCM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCM was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Eik Haraldsdottir (Genomics England)FANCM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)FANCM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen