KATNIP

katanin interacting protein
OMIM: 616650, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KATNIP in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.2

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

Green KATNIP in Mendeliome


Version 2.543

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

Red KATNIP in Renal Ciliopathies and Nephronophthisis


Level 2: Renal and urinary tract disorders
Version 2.2

Component of the following Super Panels:

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

    Green KATNIP in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.135

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

    Green KATNIP in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.150

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Joubert syndrome, MONDO:0018772

    Green KATNIP in Fetal anomalies


    Version 2.76

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