1. Genes and Genomic Entities
  2. KIAA0391

KIAA0391

KIAA0391
OMIM: 609947, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red KIAA0391 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • PRORP-related mitochondrial disorder
    Tags
    • new-gene-name
    Green KIAA0391 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Hearing loss, intellectual disability
    Tags
    • new-gene-name