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DPH2

Synonyms
DPH2L2
External resources
Summary
This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene.

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
14
Likely pathogenic
0
VUS
914
Likely benign
3
Benign
0

Patient phenotypes

Proportions of phenotypes among 13 patients carring pathogenic or likely pathogenic variants on DPH2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
30.8%
Abnormality of the ear
23.1%
Abnormality of the nervous system
23.1%
Abnormality of head or neck
15.4%
Abnormality of the cardiovascular system
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the musculoskeletal system
15.4%
Growth abnormality
15.4%
Abnormality of limbs
7.7%
Abnormality of prenatal development or birth
7.7%
Abnormality of the immune system
7.7%
Abnormality of the integument
7.7%
Abnormality of the respiratory system
7.7%
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 endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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