Microcephaly
Gene: FANCGEnsemblGeneIds (GRCh38): ENSG00000221829
EnsemblGeneIds (GRCh37): ENSG00000221829
OMIM: 602956, Gene2Phenotype
FANCG is in 15 panels
1 review
Paul De Fazio (Victorian Clinical Genetics Services)
Well-established gene-disease association, microcephaly is a feature.
Sources: LiteratureCreated: 2 Sep 2020, 6:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia, complementation group G MIM#614082
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group G MIM#614082
- OMIM
- 602956
- Clinvar variants
- Variants in FANCG
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- 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: fancg has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: fancg has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Paul De Fazio (Victorian Clinical Genetics Services)gene: FANCG was added gene: FANCG was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 20301575 Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G MIM#614082 Review for gene: FANCG was set to GREEN gene: FANCG was marked as current diagnostic