DHX38:Ensemblv90

DEAH-box helicase 38
OMIM: 605584, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber DHX38 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 84, MIM# 618220

Amber DHX38 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 84, MIM#618220

    Amber DHX38 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa 84, MIM#618220