Inherited phaeochromocytoma and paraganglioma

Gene: CDKN1B

Red List (low evidence)

CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels

4 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Katie Snape (South London GMC)

Green List (high evidence)

Treena Cranston (Oxford)

Red List (low evidence)

Ellen Thomas (Genomics England Curator)

Comment when marking as ready: Causes MEN, not PCC and PGL, so leave off this panel at this stage.
Created: 6 Feb 2016, 6:13 p.m.

Details

History Filter Activity

6 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CDKN1B was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services