Microcephaly
Gene: FANCFEnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 14 panels
1 review
Belinda Chong (Victorian Clinical Genetics Services)
Well established gene disease association
Sources: https://www.ncbi.nlm.nih.gov/books/NBK1401/
Sources: LiteratureCreated: 2 Sep 2020, 6:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group F, MIM# 603467
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group F, MIM# 603467
- OMIM
- 613897
- Clinvar variants
- Variants in FANCF
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial Ray Abnormalities
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Microcephaly
- Mendeliome
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Prepair 500+
- Cancer Predisposition_Paediatric
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancf has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fancf has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Belinda Chong (Victorian Clinical Genetics Services)gene: FANCF was added gene: FANCF was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 20301575 Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, MIM# 603467 Review for gene: FANCF was set to GREEN