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Krabbe disease - GALC deficiency
Gene: GALC
GALC (galactosylceramidase)
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #245200) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 6:40 p.m. | Last Modified: 20 Dec 2025, 6:40 p.m.
Panel Version: 1.2
GALC has been added to the panel for R280 Krabbe disease - GALC deficiency with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:22 p.m. | Last Modified: 30 Jun 2023, 2:22 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Krabbe disease, OMIM:245200
- Krabbe disease, MONDO:0009499
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- 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
20 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: GALC were changed from to Krabbe disease, OMIM:245200; Krabbe disease, MONDO:0009499
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: GALC was added gene: GALC was added to Krabbe disease - GALC deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal