DHX38

DEAH-box helicase 38
OMIM: 605584, Gene2Phenotype

2 panels

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


Level 2: Ophthalmology
Version 8.86
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 84, OMIM:618220
Tags
  • Q3_25_promote_green
Red DHX38 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 84, OMIM:618220
  • coloboma of macula, MONDO:0007351