Limb disorders
Gene: FANCAEnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.Created: 11 May 2017, 9:38 a.m.
Comment when marking as ready: evidence for causation metCreated: 28 Feb 2017, 1:27 p.m.
Many cases. BiallelicCreated: 22 Feb 2017, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group A 227650
Publications
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fanconi anemia, complementation group A, 227650
- Radial Ray abnormality
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Primary ovarian insufficiency
- Haematological malignancies cancer susceptibility
- Intellectual disability
- 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
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Helen Brittain: Many cases. Biallelic
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to FANCA. Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group A, 227650 for gene: FANCA Publications for gene FANCA were changed from to 8896563
Added New Source
Ellen McDonagh (Genomics England Curator)FANCA was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)FANCA was created by Ellen McDonagh