Monogenic short stature
Gene: FANCM
FANCM (Fanconi anemia complementation group M)
EnsemblGeneIds (GRCh38): ENSG00000187790
EnsemblGeneIds (GRCh37): ENSG00000187790
OMIM: 609644, Gene2Phenotype
FANCM is in 19 panels
EnsemblGeneIds (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
-
- 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
26 Mar 2024, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: FANCM was added gene: FANCM was added to Monogenic short stature. 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