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Cytopenias and congenital anaemias

Gene: CDKN2A

Red List (low evidence)

CDKN2A (cyclin dependent kinase inhibitor 2A)
EnsemblGeneIds (GRCh38): ENSG00000147889
EnsemblGeneIds (GRCh37): ENSG00000147889
OMIM: 600160, Gene2Phenotype
CDKN2A is in 10 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)

Green List (high evidence)

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
somatic
OMIM
600160
Clinvar variants
Variants in CDKN2A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

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.

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Mar 2017, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CDKN2A was changed to Other - please specifiy in evaluation comments

3 Mar 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CDKN2A were set to 27960642;27756164

3 Mar 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CDKN2A were set to 27960642

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Mar 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CDKN2A were set to Acute lymphoblastic leukemia (ALL)

3 Mar 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CDKN2A were set to Acute lymphoblastic leukemia (ALL);familial malignant melanoma

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

CDKN2A was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CDKN2A was created by LouiseD