Intellectual disability
Gene: GAN

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Sep 2024, 2:57 p.m.
Last Modified: 26 Sep 2024, 2:57 p.m.
Panel version: 7.41

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Biallelic variants in the GAN gene cause giant axonal neuropathy, characterised by abnormalities in the peripheral and central nervous systems. Though extent of CNS involvement can vary, intellectual disability has been reported in at least 3 unrelated cases (PMID: 18595793; 19231187). Therefore, this gene should be promoted to Green at the next GMS panel update.
Created: 17 Apr 2024, 3:07 p.m. | Last Modified: 17 Apr 2024, 3:10 p.m.

Panel Version: 5.531

Created: 17 Apr 2024, 3:07 p.m.
Last Modified: 17 Apr 2024, 3:10 p.m.
Panel version: 5.530

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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, 9:12 a.m. | Last Modified: 31 Jan 2024, 9:12 a.m.

Panel Version: 5.414

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; developmental delay; neuropathy; hypotonia

Publications

20301315

Created: 31 Jan 2024, 9:12 a.m.
Last Modified: 31 Jan 2024, 9:12 a.m.
Panel version: 5.414

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Giant axonal neuropathy-1, OMIM:256850

OMIM

605379

Clinvar variants

Variants in GAN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: GAN. Tag Q2_24_NHS_review was removed from gene: GAN.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to GAN. Source Expert Review Green was added to GAN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Apr 2024, Gel status: 2