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 1.40

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Gastrointestinal stromal tumor, familial, OMIM:606764
Green KIT in Inherited predisposition to GIST


Version 1.14
Latest signed off version: v1.2 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Gastrointestinal stromal tumor, familial, OMIM:606764
  • Gastrointestinal stromal tumor, MONDO:0011719
Green KIT in Pigmentary skin disorders


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mastocytosis, cutaneous, OMIM:154800
  • Piebaldism, OMIM:172800
Green KIT in Rare genetic inflammatory skin disorders


Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mastocytosis, cutaneous, OMIM:154800
Red KIT in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Leukemia, acute myeloid, somatic, OMIM:601626
Tags
  • somatic
Red KIT in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118

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 1.25

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert List
    Phenotypes
    • Gastrointestinal stromal tumor, familial, OMIM:606764
    Green KIT in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Gastrointestinal stromal tumor, familial, OMIM:606764
    Red KIT in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.175

    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 young onset end-stage renal disease


    Version 3.40
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Unknown
    Sources
    • Expert Review Red
    Red KIT in Fetal anomalies


    Version 3.154
    Latest signed off version: v3.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HUMAN PIEBALDISM
    Green KIT in DDG2P


    Version 3.87
    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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HUMAN PIEBALDISM 172800
    Green KIT in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.36
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 1.81
    Latest signed off version: v1.2 (18 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert Review Amber
    • Expert List
    Phenotypes
    • Gastrointestinal stromal tumor, familial, OMIM:606764
    • Gastrointestinal stromal tumor, MONDO:0011719
    Green KIT in Severe Paediatric Disorders


    Version 1.184

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