Childhood onset hereditary spastic paraplegia
Gene: GALCEnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 1:30 p.m. | Last Modified: 14 Mar 2022, 1:30 p.m.
Panel Version: 2.130
Arina Puzriakova (Genomics England Curator)
Comment on list classification: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 26 Aug 2021, 10:40 a.m. | Last Modified: 26 Aug 2021, 10:40 a.m.
Panel Version: 2.81
Biallelic variants in GALC are associated with Krabbe disease (MIM# 245200). Most patients present within the first 6 months of life with extreme irritability, spasticity, and developmental delay. A subset of cases also have later onset, including onset in the juvenile and adolescence period - all of which are relevant to this panel.
Sources: LiteratureCreated: 26 Aug 2021, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease OMIM:245200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Krabbe disease OMIM:245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- Publications
- Panels with this gene
-
- 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
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating was removed from gene: GALC.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to GALC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: galc has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: GALC was added gene: GALC was added to Hereditary spastic paraplegia - childhood onset. Sources: Literature Q3_21_rating tags were added to gene: GALC. Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 20886637; 21070211; 26396125; 28547031; 30089515; 31185936 Phenotypes for gene: GALC were set to Krabbe disease OMIM:245200 Review for gene: GALC was set to GREEN