This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset leukodystrophy
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Krabbe disease - GALC deficiency
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Lysosomal storage disorder
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)GALC was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)GALC was created by Sarah Leigh