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Hereditary neuropathy
Gene: GAN

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

1106248

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

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

Panel version: 1.58

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.352

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

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

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.

Created: 4 May 2016, 8:46 a.m.

Panel version: 0.28

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH
NHS GMS
London North GLH
Expert Review Green
Emory Genetics Laboratory
UKGTN
Expert list

Phenotypes

Giant axonal neuropathy-1, OMIM:256850

OMIM

605379

Clinvar variants

Variants in GAN

Penetrance

Complete

Publications

1106248

Panels with this gene

History Filter Activity

17 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GAN were changed from Giant axonal neuropathy-1 to Giant axonal neuropathy-1, OMIM:256850

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Giant axonal neuropathy-1 for gene: GAN Publications for gene GAN were changed from to 1106248

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GAN.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GAN.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to GAN. Rating Changed from Green List (high evidence) to Green List (high evidence)

4 May 2016, Gel status: 4