Hereditary neuropathy or pain disorder
Gene: GAN
GAN-related neurodegeneration comprises a phenotypic continuum ranging from severe (sometimes called classic giant axonal neuropathy) to milder pure early-onset peripheral motor and sensory neuropathies. The classic giant axonal neuropathy phenotype typically manifests as an infantile-onset neurodegenerative disorder, starting as a severe peripheral motor and sensory neuropathy and evolving into central nervous system impairment (intellectual disability, seizures, cerebellar signs, and pyramidal tract signs).Created: 31 Jan 2024, 9:14 a.m. | Last Modified: 31 Jan 2024, 9:14 a.m.
Panel Version: 3.82
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neuropathy; intellectual disability
Publications
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
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.Created: 6 Dec 2019, 8:24 p.m. | Last Modified: 6 Dec 2019, 8:24 p.m.
Panel Version: 0.63
Comment on list classification: Gene included in a list of complex neuropathy syndrome genes recommended to be downgraded for R78 panel (list submitted by Alex Rossor 15th July 2019)Created: 6 Dec 2019, 8:20 p.m. | Last Modified: 6 Dec 2019, 8:20 p.m.
Panel Version: 0.59
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.
should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46Created: 17 Mar 2024, 9:05 p.m. | Last Modified: 17 Mar 2024, 9:05 p.m.
Panel Version: 3.83
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.
Gene: gan has been classified as Amber List (Moderate Evidence).
gene: GAN was added gene: GAN was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 1106248 Phenotypes for gene: GAN were set to Giant axonal neuropathy-1