This Panel is marked as Internal
Anaemias and red cell 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
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- OMIM
- 164920
- Clinvar variants
- Variants in KIT
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Rare genetic inflammatory skin disorders
- Unexplained kidney failure in young people
- DDG2P
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Intellectual disability
- Pigmentary skin disorders
- Adult solid tumours for rare disease
- Unexplained young onset end-stage renal disease - additional genes
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Monogenic hearing loss
- Fetal anomalies
- CAKUT
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)KIT was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)KIT was created by BRIDGE