Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: FGD4

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Onset in infancy.

No specific treatment.
Created: 22 Nov 2022, 11:38 p.m. | Last Modified: 22 Nov 2022, 11:38 p.m.
Panel Version: 0.1021

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, type 4H, MIM#609311

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Charcot Marie Tooth disease, type 4H, MIM#609311
OMIM
611104
Clinvar variants
Variants in FGD4
Penetrance
None
Panels with this gene

History Filter Activity

22 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgd4 has been classified as Red List (Low Evidence).

22 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease to Charcot Marie Tooth disease, type 4H, MIM#609311

22 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgd4 has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,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