Pigmentary skin disorders
Gene: FANCCEnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC is in 21 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- FANCONI ANEMIA, COMPLEMENTATION GROUP C
- FANCC
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Monogenic short stature
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- Intellectual disability
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- DDG2P
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Fetal anomalies
- Childhood solid tumours
- Limb disorders
- Pigmentary skin disorders
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes FANCC; FANCONI ANEMIA, COMPLEMENTATION GROUP C for gene: FANCC Publications for gene FANCC were changed from to 8348157
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to FANCC. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: FANCC was added gene: FANCC was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal