Inherited white matter disorders
Gene: GALCEnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
2 reviews
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_624
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 6 Jul 2016, 2:40 p.m.
Comment on list classification: Provisionally accepted by UKGTN for Combined leukodystrophy/mitochondrial leukoencephalopathy 94-gene panel (Ian Berry)Created: 6 Jul 2016, 2:36 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Krabbe disease, OMIM:245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Hereditary ataxia with onset in adulthood
- Fetal anomalies
- Adult onset leukodystrophy
- 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
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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for GALC were set to Krabbe disease 245200
Set publications
Sarah Leigh (Genomics England Curator)Publications for GALC were set to 8786069; 25655951; 20886637
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for GALC was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)GALC was added to Inherited white matter disorderspanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GALC was added to Inherited white matter disorderspanel. Sources: UKGTN
Created
Ellen McDonagh (Genomics England Curator)GALC was created by ellenmcdonagh