1. Genes and Genomic Entities
  2. DPH1

DPH1

diphthamide biosynthesis 1
OMIM: 603527, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green DPH1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Amber DPH1 in Rare syndromic craniosynostosis or isolated multisuture synostosis


Level 2: Musculoskeletal
Version 6.3
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901
Green DPH1 in Intellectual disability


Level 2: Developmental disorders
Version 9.285
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
    • Expert Review
    • Expert Review
    • Literature
    Phenotypes
    • Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901