Adult onset hereditary spastic paraplegia
Gene: GALCEnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 18 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Arina Puzriakova (Genomics England Curator)
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)
Adult onset spastic paraplegia is reported as a feature of the condition in greater than 3 cases.
Sources: Expert listCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Krabbe disease, OMIM:245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- 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
- 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)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_21_rating tag was added to gene: GALC.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: galc has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: galc has been classified as Green List (High Evidence).
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GALC were changed from Krabbe disease MIM#245200 to Krabbe disease, OMIM:245200
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