Hereditary neuropathy
Gene: GAN
In Bristol 4x C4 (one said to have giant axonal neuropathy). First paper PMID:11062483 identifying GAN gene in giant axonal neuropathy. Multiple papers since on HGMDCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Giant axonal neuropathy-1
Publications
Variants in this GENE are reported as part of current diagnostic practice
The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.Created: 4 May 2016, 8:46 a.m.
Added phenotypes Giant axonal neuropathy-1 for gene: GAN Publications for gene GAN were changed from to 1106248
Source South West GLH was added to GAN.
Source NHS GMS was added to GAN.
Source London North GLH was added to GAN. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for GAN were set to Giant axonal neuropathy-1
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene GAN was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GAN was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GAN was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene GAN was changed to BIALLELIC, autosomal or pseudoautosomal
GAN was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene GAN was changed to BIALLELIC, autosomal or pseudoautosomal
GAN was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
GAN was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory