This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: KIT
KIT (KIT proto-oncogene receptor tyrosine kinase)
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000157404
EnsemblGeneIds (GRCh37): ENSG00000157404
OMIM: 164920, Gene2Phenotype
KIT is in 15 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Piebaldism, 172800
- Gastrointestinal stromal tumor, familial, 606764
- Mast cell disease, 154800
- Leukemia, acute myeloid, 601626
- Germ cell tumors, 273300
- Piebald Trait
- PIEBALD TRAIT (PBT)
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- Complete
- Panels with this gene
-
- CAKUT
- Intellectual disability
- Pigmentary skin disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Cytopenias and congenital anaemias
- Fetal anomalies
- Monogenic hearing loss
- Adult solid tumours for rare disease
- Sarcoma susceptibility
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Unexplained young onset end-stage renal disease - additional genes
- DDG2P
- Rare genetic inflammatory skin disorders
History Filter Activity
10 Dec 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)KIT was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
10 Dec 2015, Gel status: 2
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)KIT was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Dec 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)KIT was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)KIT was created by ellenmcdonagh