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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

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
35
Likely pathogenic
28
VUS
2,776
Likely benign
1,609
Benign
269

Patient phenotypes

Proportions of phenotypes among 63 patients carrying pathogenic or likely pathogenic variants on DPH1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.7%
Abnormality of the cardiovascular system
25.4%
Abnormality of the eye
22.2%
Abnormality of the musculoskeletal system
20.6%
Abnormality of head or neck
17.5%
Abnormality of the ear
17.5%
Abnormality of limbs
11.1%
Abnormality of the genitourinary system
11.1%
Growth abnormality
7.9%
Abnormality of the endocrine system
6.3%
Abnormality of the integument
6.3%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the immune system
4.8%
Neoplasm
3.2%
Abnormal cellular phenotype
1.6%
Abnormality of prenatal development or birth
1.6%
Abnormality of the digestive system
1.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
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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