Hereditary neuropathy

Gene: FGD4

Green List (high evidence)

Multiple C5s in Bristol. Also well established from looking at HGMD. PMID: 15744041 - original paper mapping locus through linkage in 2 consanguineous families. PMID: 17564959 - identified the mutations from the original paper

Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth, Type 4 ; Charcot Marie Tooth disease, type 4H, 609311

Publications

• 15744041
• 17564959

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 5 p.m.

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 29 Apr 2019, 12:53 p.m.

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.

Created: 10 Jun 2016, 12:55 p.m.