This Panel is marked as Internal
Anaemias and red cell disorders
Gene: CDKN2A
CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute lymphoblastic leukemia (ALL)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Acute lymphoblastic leukemia (ALL)
- OMIM
- 600160
- Clinvar variants
- Variants in CDKN2A
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours for rare disease
- Cytopenias and congenital anaemias
- GI tract tumours
- Multiple monogenic benign skin tumours
- Familial tumours of the nervous system
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Melanoma pertinent cancer susceptibility
- Familial melanoma
- Inherited pancreatic cancer
- Pigmentary skin disorders
- Bilateral congenital or childhood onset cataracts
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
Created
BRIDGE consortium (NIHRBR-RD)CDKN2A was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)CDKN2A was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)