KIT

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KIT in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Piebaldism, MIM# 172800
  • Gastrointestinal stromal tumor, familial, MIM# 606764
  • Mastocytosis, cutaneous, MIM# 154800

Green KIT in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.213

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Piebaldism, MIM# 172800

Green KIT in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Piebaldism, MIM# 172800

Green KIT in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Piebaldism

Green KIT in Incidentalome_PREGEN_DRAFT


Version 0.43

review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red KIT in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764

Green KIT in Gastrointestinal Stromal Tumour


Level 2: Cancer Predisposition
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Gastrointestinal stromal tumor, MONDO:0011719
  • Gastrointestinal stromal tumor, familial, MIM#606764