Congenital anaemias
Gene: FANCAEnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Fanconi Anemia
- Fanconi anemia, complementation group A, 227650
- OMIM
- 607139
- Clinvar variants
- Variants in FANCA
- Penetrance
- Complete
- Panels with this gene
-
- Limb disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Severe microcephaly
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- Intellectual disability
- Fetal anomalies
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Structural eye disease
- Childhood solid tumours
- DDG2P
- Monogenic short stature
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCA was added to Congenital anaemiaspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCA was added to Congenital anaemiaspanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCA was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()FANCA was added to Congenital anaemiaspanel. Sources: UKGTN
Added New Source
GEL ()FANCA was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FANCA was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services