Hereditary Neuropathy - complex
Gene: GANEnsemblGeneIds (GRCh38): ENSG00000261609
EnsemblGeneIds (GRCh37): ENSG00000261609
OMIM: 605379, Gene2Phenotype
GAN is in 9 panels
1 review
Chirag Patel (Genetic Health Queensland)
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 May 2022, 5:08 a.m. | Last Modified: 19 May 2022, 5:08 a.m.
Panel Version: 0.125
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Giant axonal neuropathy-1, MIM# 256850
Publications
- PMID: 11062483
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gan has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GAN were changed from HMSN; Giant axonal neuropathy-1 to Giant axonal neuropathy-1, MIM# 256850
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GAN were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GAN was added gene: GAN was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to HMSN; Giant axonal neuropathy-1