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GAPDHS

Synonyms
GAPD2, GAPDH-2, GAPDS, HEL-S-278, HSD-35
External resources
Summary
This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility.

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
28
Likely pathogenic
0
VUS
1,799
Likely benign
30
Benign
0

Patient phenotypes

Proportions of phenotypes among 28 patients carring pathogenic or likely pathogenic variants on GAPDHS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the musculoskeletal system
25%
Abnormality of the eye
17.9%
Abnormality of head or neck
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the cardiovascular system
10.7%
Growth abnormality
10.7%
Abnormality of limbs
7.1%
Abnormality of the ear
7.1%
Abnormality of the immune system
7.1%
Neoplasm
7.1%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of prenatal development or birth
3.6%
Abnormality of the breast
3.6%
Abnormality of the integument
3.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
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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