Structural eye disease
Gene: FANCAEnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Wong reported that homozygous knockout mice have microphthalmia. Giampietro mentions microphthalmia in his paper on 370 families with FA but there is no mention of how many and not confirmed by sequencing.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Mariya Moosajee (Moorfields Eye Hospital)
Phenotypes
Fanconi Anemia, Complementation Group A, FA
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- London North GLH
- Phenotypes
-
- Fanconi Anemia, Complementation Group A, FA, 227650
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- None
- 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
- Intellectual disability
- Monogenic short stature
- Neurofibromatosis Type 1
- Structural eye disease
- Childhood solid tumours
- Haematological malignancies for rare disease
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- DDG2P
- Limb disorders
History Filter Activity
Added New Source, Added New Source, Set publications, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FANCA. Source Expert Review Red was added to FANCA. Publications for gene FANCA were changed from to 8502512; 12913077 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to FANCA. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FANCA was added gene: FANCA was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCA were set to Fanconi Anemia, Complementation Group A, FA, 227650