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DPH1

Synonyms
DEDSSH, DPH2L, DPH2L1, OVCA1
External resources
Summary
The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

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
20
Likely pathogenic
12
VUS
1,600
Likely benign
1,121
Benign
125

Patient phenotypes

Proportions of phenotypes among 32 patients carring pathogenic or likely pathogenic variants on DPH1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
37.5%
Abnormality of the nervous system
37.5%
Abnormality of the musculoskeletal system
21.9%
Abnormality of head or neck
18.8%
Abnormality of the ear
15.6%
Abnormality of the eye
15.6%
Abnormality of the integument
12.5%
Abnormality of limbs
9.4%
Abnormality of blood and blood-forming tissues
6.3%
Abnormality of the genitourinary system
6.3%
Growth abnormality
6.3%
Abnormality of prenatal development or birth
3.1%
Abnormality of the endocrine system
3.1%
Abnormality of the immune system
3.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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