1. Panels
  2. Hereditary Spastic Paraplegia - adult onset
  3. GALC
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - adult onset

Gene: GALC

Green List (high evidence)
GALC (galactosylceramidase)
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 20 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases.
Sources: Expert list
Created: 17 Jun 2020, 5:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Krabbe disease MIM#245200

Publications

Created: 17 Jun 2020, 5:37 a.m.

Panel version: 0.16

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: galc has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: galc has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GALC was added gene: GALC was added to Hereditary Spastic Paraplegia - adult onset. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to 9272171; 11971051; 22959700; 26396125; 26915362; 28547031; 31185936; 32064984 Phenotypes for gene: GALC were set to Krabbe disease MIM#245200 Review for gene: GALC was set to GREEN