KIAA0556

KIAA0556
OMIM: 616650, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KIAA0556 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Joubert syndrome 26, MIM# 616784
Tags
  • new gene name

Green KIAA0556 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 26, MIM# 616784
Tags
  • new gene name

Red KIAA0556 in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 1.22

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    Phenotypes
    • Joubert syndrome 26, MIM# 616784

    Green KIAA0556 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 26, MIM# 616784

    Green KIAA0556 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome 26 - MIM#616784
    Tags
    • new gene name