Cytopenias and congenital anaemias
Gene: CDKN2AEnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 12 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Somatic variants for Acute lymphoblastic leukemia (ALL).Created: 3 Mar 2017, 1:37 p.m.
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
- Other - please specifiy in evaluation comments
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute lymphoblastic leukemia (ALL)
- Tags
- OMIM
- 600160
- Clinvar variants
- Variants in CDKN2A
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CDKN2A was changed to Other - please specifiy in evaluation comments
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CDKN2A were set to 27960642;27756164
Set publications
Ellen McDonagh (Genomics England Curator)Publications for CDKN2A were set to 27960642
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CDKN2A were set to Acute lymphoblastic leukemia (ALL)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CDKN2A were set to Acute lymphoblastic leukemia (ALL);familial malignant melanoma
Added New Source
Louise Daugherty (Genomics England Curator)CDKN2A was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)CDKN2A was created by LouiseD