Home > Gene Browser > GALC

GALC

Synonyms
-
External resources
Summary
This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
21
Likely pathogenic
31
VUS
3,205
Likely benign
3,096
Benign
455

Patient phenotypes

Proportions of phenotypes among 47 patients carring pathogenic or likely pathogenic variants on GALC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.3%
Abnormality of the cardiovascular system
27.7%
Abnormality of the eye
23.4%
Abnormality of the musculoskeletal system
21.3%
Abnormality of head or neck
17%
Growth abnormality
12.8%
Abnormality of limbs
10.6%
Abnormality of the ear
10.6%
Abnormality of the genitourinary system
10.6%
Abnormality of the integument
10.6%
Abnormality of blood and blood-forming tissues
4.3%
Abnormality of the immune system
4.3%
Abnormality of the respiratory system
4.3%
Abnormality of the breast
2.1%
Abnormality of the digestive system
2.1%
Neoplasm
2.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes