Microcephaly
Gene: FANCCEnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC is in 15 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
75% of Fanconi Anemia (FA) patients have microcephaly and approx 14% cases is caused by FANCC
Sources: LiteratureCreated: 2 Sep 2020, 6:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group C (MIM#227645)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Fanconi anemia, complementation group C (MIM#227645)
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Radial Ray Abnormalities
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Prepair 500+
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fancc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fancc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: FANCC was added gene: FANCC was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 20301575 Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C (MIM#227645) Penetrance for gene: FANCC were set to unknown Review for gene: FANCC was set to GREEN