Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, galactosylceramidase deficiency
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- Complete
- Panels with this gene
-
- Lysosomal storage disorder
- Fetal anomalies
- Intellectual disability
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset leukodystrophy
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Krabbe disease - GALC deficiency
- Adult onset hereditary spastic paraplegia
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)GALC was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory