Hereditary spastic paraplegia - childhood onsetGene: GALC
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.
Created: 26 Aug 2021, 10:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Krabbe disease OMIM:245200
Gene: galc has been classified as Amber List (Moderate Evidence).
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