KIT:Ensemblv90

KIT proto-oncogene receptor tyrosine kinase
OMIM: 164920, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green KIT in Mendeliome


Version 1.3802

1 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 1.304

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

Red KIT in CGC_86


Version 0.3

0 reviews Other
Sources
  • CGC_86
Phenotypes
  • Gastrointestinal stroma tumor

Red KIT in NCGC


Version 0.3

0 reviews Other
Sources
  • NCGC
Phenotypes
  • Gastrointestinal stroma tumor

Red KIT in TCGA_PANCAN_2018


Version 0.3

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Gastrointestinal stroma tumor

Green KIT in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.84

1 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

0 reviews 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

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red KIT in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 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 Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

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

Red KIT in TCGA_PANCAN_2018


Version 1.0

0 reviews Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • Gastrointestinal stroma tumor

Green KIT in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

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