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Hereditary Spastic Paraplegia - paediatric

Gene: GAN

Green List (high 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)

Green List (high evidence)

Giant axonal neuropathy is a chronic polyneuropathy of childhood that affects both the peripheral and central nervous systems and is accompanied by characteristically kinky hair and unique posture of legs. Spasticity is a feature.
Created: 19 Sep 2020, 7:24 a.m. | Last Modified: 19 Sep 2020, 7:24 a.m.
Panel Version: 0.125

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Giant axonal neuropathy-1, MIM# 256850

Publications

Created: 19 Sep 2020, 7:24 a.m.
Last Modified: 19 Sep 2020, 7:24 a.m.
Panel version: 0.125

Details

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

History Filter Activity

19 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GAN were set to 26381321

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GAN was added gene: GAN was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAN were set to 26381321 Phenotypes for gene: GAN were set to Giant axonal neuropathy