Hereditary spastic paraplegia - adult onset

Gene: GALC

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). 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, 10:09 a.m. | Last Modified: 26 Aug 2021, 10:09 a.m.
Panel Version: 1.61
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. However a subset of cases have later onset, including some adult-onset - typically less severe and slower progression. Those with adult-onset may have spastic paraparesis as the only symptom.
Created: 26 Aug 2021, 10:08 a.m. | Last Modified: 26 Aug 2021, 10:08 a.m.
Panel Version: 1.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Krabbe disease, OMIM:245200

Publications

Zornitza Stark (Australian Genomics)

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: 20 Sep 2020, 8:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Krabbe disease MIM#245200

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Aug 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: GALC.

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: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

26 Aug 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GALC were changed from Krabbe disease MIM#245200 to Krabbe disease, OMIM:245200

20 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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 gene: GALC was marked as current diagnostic