DTHD1

death domain containing 1
OMIM: 616979, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red DTHD1 in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 0.209

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Leber congenital amaurosis with muscle dystrophy

    Red DTHD1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Leber congenital amaurosis with myopathy

    Red DTHD1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Leber congenital amaurosis with myopathy