Hereditary ataxia with onset in adulthood
Gene: GALCEnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 1 Aug 2019, 1:30 p.m. | Last Modified: 1 Aug 2019, 1:30 p.m.
Panel Version: 1.181
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Unusual presentation but 5 member kindred presenting with predominant cerebellar ataxia (26915362) and two patients with spastic ataxia reported by Tappino et al 2010 (20886637). Further case report with patient developing progressive ataxia (doi: 10.5455/ijmsph.2014.150320141)
Sources: Expert ReviewCreated: 26 Jul 2019, 9:14 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
KRABBE DISEASE, 245200
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Krabbe disease, OMIM:245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Hyperammonaemia
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Adult onset hereditary spastic paraplegia
- Krabbe disease - GALC deficiency
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GALC were changed from Krabbe disease, 245200 to Krabbe disease, OMIM:245200
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GALC were changed from KRABBE DISEASE, 245200 to Krabbe disease, 245200
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: galc has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Nick Beauchamp (Sheffield Diagnostic Genetics Service)gene: GALC was added gene: GALC was added to Hereditary ataxia - adult onset. Sources: Expert Review Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 26915362, 20886637 Phenotypes for gene: GALC were set to KRABBE DISEASE, 245200 Review for gene: GALC was set to GREEN gene: GALC was marked as current diagnostic