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Prepair 1000+

Gene: GAN

Green List (high evidence)

GAN (gigaxonin)
EnsemblGeneIds (GRCh38): ENSG00000261609
EnsemblGeneIds (GRCh37): ENSG00000261609
OMIM: 605379, Gene2Phenotype
GAN is in 9 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

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). Most affected individuals become wheelchair dependent in the second decade of life and eventually bedridden with severe polyneuropathy, ataxia, and dementia. Death usually occurs in the third decade. At the milder end of the spectrum are predominantly motor and sensory neuropathies (with little to no CNS involvement) that overlap with the axonal form of Charcot-Marie-Tooth neuropathies.

HGNC approved symbol: GAN
Is the phenotype severe and early onset ,18yo? Y
Created: 25 Sep 2024, 6:16 a.m. | Last Modified: 25 Sep 2024, 6:16 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Giant axonal neuropathy-1, MIM# 256850; MONDO:0009749

Publications

Details

History Filter Activity

1 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: gan has been classified as Green List (High Evidence).

1 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: GAN were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GAN was added gene: GAN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3)