KANK1

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red KANK1 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

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


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    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 2: Renal
    Version 5.7
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Steroid sensitive resistant nephrotic syndrome