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Additional findings_Paediatric

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease
OMIM
611104
Clinvar variants
Variants in FGD4
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Charcot-Marie-Tooth disease for gene: FGD4

27 Aug 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease