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  3. GAN
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Leukodystrophy - adult onset

Gene: GAN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typically causes a childhood onset neuropathy with some CNS features but cannot find direct link with leukodystrophy.
Created: 27 Apr 2020, 6:09 a.m. | Last Modified: 27 Apr 2020, 6:09 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Giant axonal neuropathy-1, MIM# 256850

Created: 27 Apr 2020, 6:09 a.m.
Last Modified: 27 Apr 2020, 6:09 a.m.
Panel version: 0.24

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Giant axonal neuropathy-1, MIM#256850
OMIM
605379
Clinvar variants
Variants in GAN
Penetrance
None
Panels with this gene

History Filter Activity

27 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gan has been classified as Red List (Low Evidence).

27 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gan has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GAN was added gene: GAN was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, MIM#256850