Genes in panel

Hereditary ataxia - adult onset

Gene: GALC

Amber List (moderate evidence)

GALC (galactosylceramidase)
EnsemblGeneIds (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 Amber
Created: 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)

Green List (high evidence)

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 Review
Created: 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

History Filter Activity

26 Aug 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GALC were changed from Krabbe disease, 245200 to Krabbe disease, OMIM:245200

1 Aug 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GALC were changed from KRABBE DISEASE, 245200 to Krabbe disease, 245200

1 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: galc has been classified as Amber List (Moderate Evidence).

26 Jul 2019, Gel status: 0

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