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GALT

Synonyms
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External resources
Summary
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
36
Likely pathogenic
4
VUS
17,000
Likely benign
868
Benign
26

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on GALT gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
25.6%
Abnormality of the cardiovascular system
20.5%
Abnormality of the eye
15.4%
Abnormality of the digestive system
12.8%
Abnormality of the musculoskeletal system
10.3%
Abnormality of head or neck
7.7%
Abnormality of the genitourinary system
7.7%
Abnormality of the immune system
7.7%
Abnormality of limbs
5.1%
Abnormality of the ear
5.1%
Constitutional symptom
5.1%
Abnormality of prenatal development or birth
2.6%
Abnormality of the endocrine system
2.6%
Abnormality of the integument
2.6%
Abnormality of the respiratory system
2.6%
Growth abnormality
2.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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