DHX38

DEAH-box helicase 38
OMIM: 605584, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber DHX38 in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.90
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Retinitis pigmentosa 84, 618220
Red DHX38 in Structural eye disease


Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Retinitis Pigmentosa and Macular Coloboma, 618220