Childhood solid tumours
Gene: FANCMComment 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.
This gene has been classified as Red List (Low Evidence).
Publications for FANCM were set to 16116422; 19423727; 25078778
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene FANCM was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene FANCM was changed to BIALLELIC, autosomal or pseudoautosomal
FANCM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Model of inheritance for gene FANCM was changed to BIALLELIC, autosomal or pseudoautosomal
FANCM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
FANCM was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen