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GALM

Synonyms
BLOCK25, GALAC4, GLAT, HEL-S-63p, IBD1
External resources
Summary
This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.

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
44
Likely pathogenic
0
VUS
963
Likely benign
213
Benign
22

Patient phenotypes

Proportions of phenotypes among 44 patients carring pathogenic or likely pathogenic variants on GALM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
27.3%
Abnormality of the nervous system
25%
Abnormality of the eye
13.6%
Abnormality of the musculoskeletal system
13.6%
Abnormality of head or neck
9.1%
Abnormality of the genitourinary system
9.1%
Abnormality of the ear
6.8%
Growth abnormality
6.8%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the digestive system
4.5%
Abnormality of the immune system
4.5%
Neoplasm
4.5%
Abnormality of limbs
2.3%
Abnormality of the endocrine system
2.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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