Congenital anaemias
Gene: FANCCEnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC 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 C, 227645
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- Limb disorders
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Intellectual disability
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Monogenic short stature
- Head and neck cancer pertinent cancer susceptibility
- Fetal anomalies
- IUGR and IGF abnormalities
- Severe microcephaly
- Childhood solid tumours
- DDG2P
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCC was added to Congenital anaemiaspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCC 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 FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)FANCC was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()FANCC was added to Congenital anaemiaspanel. Sources: UKGTN
Added New Source
GEL ()FANCC was added to Congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()FANCC was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services