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Mackenzie's Mission_Reproductive Carrier Screening

Gene: FGD4

Green List (high evidence)

FGD4 (FYVE, RhoGEF and PH domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000139132
EnsemblGeneIds (GRCh37): ENSG00000139132
OMIM: 611104, Gene2Phenotype
FGD4 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4H, 609311 (3)
OMIM
611104
Clinvar variants
Variants in FGD4
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FGD4 was added gene: FGD4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3)