1. Genes and Genomic Entities
  2. DPH5

DPH5

diphthamide biosynthesis 5
OMIM: 611075, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DPH5 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
Green DPH5 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DPH5-related neurodevelopmental disorder
    Green DPH5 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.168
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070
    Green DPH5 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.346
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties, OMIM:620070