Inherited renal cancer
Gene: CDKN2BEnsemblGeneIds (GRCh38): ENSG00000147883
EnsemblGeneIds (GRCh37): ENSG00000147883
OMIM: 600431, Gene2Phenotype
CDKN2B is in 2 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 1 Feb 2019, 9:46 a.m. | Last Modified: 31 Jul 2019, 12:56 p.m.
Panel Version: 0.38
Rachel Robinson (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Renal cell carcinoma (disease), MONDO:0005086
- OMIM
- 600431
- Clinvar variants
- Variants in CDKN2B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDKN2B were changed from to Renal cell carcinoma (disease), MONDO:0005086
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdkn2b has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CDKN2B were set to PMID:25873077
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdkn2b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Rachel Robinson (Leeds Genetics Laboratory)gene: CDKN2B was added gene: CDKN2B was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: CDKN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN2B were set to PMID:25873077 gene: CDKN2B was marked as current diagnostic