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

Hereditary neuropathy NOT PMP22 copy number

Gene: GAN

Amber List (moderate evidence)

GAN (gigaxonin)
EnsemblGeneIds (GRCh38): ENSG00000261609
EnsemblGeneIds (GRCh37): ENSG00000261609
OMIM: 605379, Gene2Phenotype
GAN is in 4 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 HGMD
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.
Created: 4 May 2016, 8:46 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Giant axonal neuropathy-1
OMIM
605379
Clinvar variants
Variants in GAN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: gan has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

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