Hereditary spastic paraplegia - childhood onset

Gene: GALC

Amber List (moderate evidence)

GALC (galactosylceramidase)
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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: Literature
Created: 26 Aug 2021, 10:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Krabbe disease OMIM:245200

Publications

History Filter Activity

26 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: galc has been classified as Amber List (Moderate Evidence).

26 Aug 2021, Gel status: 1

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