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
-
- Haematological malignancies cancer susceptibility
- DDG2P
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Monogenic short stature
- Fetal anomalies
- Neurofibromatosis Type 1
- Limb disorders
- Haematological malignancies for rare disease
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Structural eye disease
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
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