Growth failure in early childhood
Gene: FANCMEnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 19 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Fanconi anemia, complementation group M, 614087
- OMIM
- 609644
- Clinvar variants
- Variants in FANCM
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pigmentary skin disorders
- Monogenic short stature
- Severe microcephaly
- Neurofibromatosis Type 1
- Childhood solid tumours
- Haematological malignancies for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- DDG2P
- Limb disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FANCM were changed from Fanconi anemia, complementation group M, 614087; Fanconi Anemia; Fanconi anemia to Fanconi anemia, complementation group M, 614087
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: FANCM was added gene: FANCM was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCM were set to 16116422; 19423727; 25078778 Phenotypes for gene: FANCM were set to Fanconi anemia, complementation group M, 614087; Fanconi Anemia; Fanconi anemia