Inherited phaeochromocytoma and paraganglioma
Gene: CDKN1B
CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels
4 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Treena Cranston (Oxford)
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
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Multiple Endocrine Neoplasia
- OMIM
- 600778
- Clinvar variants
- Variants in CDKN1B
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Parathyroid Cancer
- Multiple endocrine tumours
- Endocrine neoplasia
- Monogenic hearing loss
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Thyroid cancer pertinent cancer susceptibility
- Neuroendocrine cancer pertinent cancer susceptibility
- COVID-19 research
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