KANK1

KN motif and ankyrin repeat domains 1
OMIM: 607704, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red KANK1 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red KANK1 in DDG2P


Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900
    Red KANK1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Other - please specify in evaluation comments
    Sources
    • Expert Review Red
    Phenotypes
    • CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 (CPSQ2)
    Red KANK1 in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Steroid sensitive resistant nephrotic syndrome