Brain Calcification
Gene: GALCEnsemblGeneIds (GRCh38): ENSG00000054983
EnsemblGeneIds (GRCh37): ENSG00000054983
OMIM: 606890, Gene2Phenotype
GALC is in 20 panels
2 reviews
Yetong Chen (University of Melbourne)
Additional cases are reported in literatures.
PMID 22150413 reports 2 unrelated patients with GALC variants who developed brain calcification.
PMID 20135576 reports a patient with heterozygous GALC variants who developed brain calcification.Created: 10 Apr 2023, 11:36 a.m. | Last Modified: 10 Apr 2023, 11:36 a.m.
Panel Version: 1.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, MIM# 245200
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Thalamus calcification is a feature of Krabbe disease.
Sources: Expert listCreated: 24 Jul 2020, 9:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Krabbe disease, MIM# 245200
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Krabbe disease, MIM# 245200
- OMIM
- 606890
- Clinvar variants
- Variants in GALC
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: galc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: galc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GALC was added gene: GALC was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALC were set to Krabbe disease, MIM# 245200 Review for gene: GALC was set to GREEN