Cerebral Palsy
Gene: GALC
GALC (galactosylceramidase)
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 20 panels
1 review
Clare van Eyk (University of Adelaide)
2 individuals reported with biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Krabbe disease is associated with progressive spasticity with variable at age at onset. Later onset can be associated with a slower progression and can mimic CP.
Sources: LiteratureCreated: 13 Jun 2024, 4:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, MIM#245200
Publications
- PMID: 38693247
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Krabbe disease, MIM#245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- Publications
-
- PMID: 38693247
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- Brain Calcification
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Macrocephaly_Megalencephaly
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Callosome
- Cerebral Palsy
History Filter Activity
14 Jun 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: galc has been classified as Amber List (Moderate Evidence).
14 Jun 2024, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: galc has been classified as Amber List (Moderate Evidence).
13 Jun 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: GALC was added gene: GALC was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALC were set to PMID: 38693247 Phenotypes for gene: GALC were set to Krabbe disease, MIM#245200 Review for gene: GALC was set to AMBER