KIT

KIT proto-oncogene receptor tyrosine kinase
OMIM: 164920, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Green KIT in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gastro-Intestinal Stromal Tumor

Green KIT in Inherited predisposition to GIST


Version 1.4
Signed off v.1.2 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List

Green KIT in Pigmentary skin disorders


Version 1.9
Signed off v.1.4 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PBT
  • Piebaldism
  • MASTC, PIEBALD TRAIT
  • Mast cell disease
  • MASTOCYTOSIS, CUTANEOUS

Green KIT in Rare genetic inflammatory skin disorders


Version 1.7
Signed off v.1.6 on 15 Oct 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MASTOCYTOSIS, CUTANEOUS
  • Mast cell disease
  • Piebaldism
  • MASTC

Red KIT in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic

Red KIT in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.92

Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert Review Red
    • Expert list

    Amber KIT in Sarcoma cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.15

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert List

    Green KIT in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.7
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Gastro-Intestinal Stromal Tumor

    Red KIT in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.157

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert list

    Red KIT in Unexplained paediatric onset end-stage renal disease


    Version 1.12
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red

    Red KIT in Fetal anomalies


    Version 1.179
    Signed off v.1.92 on 21 Aug 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HUMAN PIEBALDISM

    Green KIT in DDG2P


    Version 2.18
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HUMAN PIEBALDISM 172800

    Green KIT in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.146
    Signed off v.2.5 on 13 Feb 2020

    review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    • UKGTN
    Phenotypes
    • Piebaldism and congenital sensorineural hearing loss

    Red KIT in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Piebaldism, 172800
    • Gastrointestinal stromal tumor, familial, 606764
    • Mast cell disease, 154800
    • Leukemia, acute myeloid, 601626
    • Germ cell tumors, 273300

    Amber KIT in Sarcoma susceptibility


    Version 1.5
    Signed off v.1.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert Review Amber
    • Expert List

    Green KIT in Severe Paediatric Disorders


    Version 1.43

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Piebaldism, 172800
    • Mastocytosis, cutaneous, 154800