DPH1 Chromosome 17
Diphthamide biosynthesis 1
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What This Gene Does
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. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
"Minor histocompatibility antigens|Diphthamide biosynthesis genes"
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000108963
Associated Conditions (10)
Developmental delay with short stature
dysmorphic facial features
and sparse hair
Inborn genetic diseases
DPH1-related disorder
and sparse hair 1
Dandy-Walker syndrome
Global developmental delay
Cerebellar vermis hypoplasia
Hydrocephalus
Key Variants
RS200530055
Conflicting classifications of pathogenicity
Developmental delay with short stature, dysmorphic facial features, and sparse hair
Health Risk
RS2543531771
Conflicting classifications of pathogenicity
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Health Risk
RS774761076
Conflicting classifications of pathogenicity
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Health Risk
RS1185902827
Likely pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Health Risk
RS2151346853
Likely pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair
Health Risk
RS2151347730
Likely pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair
Health Risk
RS2067429826
Pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Health Risk
RS2151341681
Pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Health Risk
RS757405584
Pathogenic
Health Risk
RS763506909
Pathogenic
Health Risk
RS772969956
Pathogenic
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Health Risk
RS730882250
Pathogenic/Likely pathogenic
Dandy-Walker syndrome, Global developmental delay, Cerebellar vermis hypoplasia
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200530055 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with short stature, dysmorphic facial features, and sparse hair |
| RS2543531771 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS774761076 | Health Risk | Conflicting classifications of pathogenicity | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS1185902827 | Health Risk | Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS2151346853 | Health Risk | Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair |
| RS2151347730 | Health Risk | Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair |
| RS2067429826 | Health Risk | Pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS2151341681 | Health Risk | Pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS757405584 | Health Risk | Pathogenic | — |
| RS763506909 | Health Risk | Pathogenic | — |
| RS772969956 | Health Risk | Pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS730882250 | Health Risk | Pathogenic/Likely pathogenic | Dandy-Walker syndrome, Global developmental delay, Cerebellar vermis hypoplasia |
| RS756128712 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |
| RS757167361 | Health Risk | Pathogenic/Likely pathogenic | Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 |