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  2. Hereditary Neuropathy_CMT - isolated
  3. FGD4
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Hereditary Neuropathy_CMT - isolated

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 3 May 2021, 9:55 p.m. | Last Modified: 3 May 2021, 9:55 p.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 May 2021, 9:55 p.m.
Last Modified: 3 May 2021, 9:55 p.m.
Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 4H, 609311
  • MONDO:0012250
  • HMSN
OMIM
611104
Clinvar variants
Variants in FGD4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fgd4 has been classified as Green List (High Evidence).

3 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FGD4 were changed from Charcot Marie Tooth disease, type 4H, 609311; HMSN to Charcot Marie Tooth disease, type 4H, 609311; MONDO:0012250; HMSN

3 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FGD4 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FGD4 was added gene: FGD4 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,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; HMSN