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Fetal anomalies

Gene: DPH5

Green List (high evidence)
DPH5 (diphthamide biosynthesis 5)
EnsemblGeneIds (GRCh38): ENSG00000117543
EnsemblGeneIds (GRCh37): ENSG00000117543
OMIM: 611075, Gene2Phenotype
DPH5 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

Green List (high evidence)

Green on UK panels: DDG2P, Early onset or syndromic epilepsy and Intellectual disability. Associated with Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties. PMID 35482014 - reported 5 patients from 3 families with a similar neurodevelopmental disorder. Sibs 1A and 1B from family A both had dysmorphic features, including a broad forehead, sparse eyebrows, epicanthal folds, and poor dentition. A brain MRI in the older sib showed brain atrophy at 1 year of age and was normal in the younger sib at 5 years of age. Patients 2A and 2B from family B had seizures, appendicular hypertonia, central hypotonia, and extensible skin. Brain MRI in the older sib showed a white matter lesion in the left inferior frontal gyrus, vertically oriented hippocampi, and a prominent ventricular system. Brain MRI in the younger sib showed diffuse paucity of white matter and cerebellar vermian hypoplasia. Patient 3A from family 3 had a ventricular septal defect, pulmonary stenosis, pericardial effusion, and brachycephaly. Dysmorphic facial features included broad forehead with bitemporal narrowing, epicanthal folds, and downturned corners of the mouth. She died from a bowel perforation at 11 days of life. Brain MRI showed an enlarged cisterna magna, normal myelination and gyration. PMID 40725455 describes an additional case with the same hom missense variant as one of the families in PMID 35482014 - Brain MRI (3 y): corpus callosum hypoplasia, inferior vermis hypoplasia, enlarged cisterna magna.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
OMIM
611075
Clinvar variants
Variants in DPH5
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070 for gene: DPH5

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: DPH5 was added gene: DPH5 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal