Regression
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
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- 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
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GALC was added gene: GALC was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GALC was set to Unknown