Parathyroid Cancer
Gene: CDKN1BEnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels
2 reviews
Katie Snape (South London GMC)
Louise IZATT (GSTT Clinical Genetics Service)
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Multiple endocrine neoplasia, type IV, OMIM:610755
- Pituitary Cancer, Parathyroid and Hypercalcemia
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDKN1B were changed from Pituitary Cancer, Parathyroid and Hypercalcemia to Multiple endocrine neoplasia, type IV, OMIM:610755; Pituitary Cancer, Parathyroid and Hypercalcemia
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1B was added to Parathyroid Cancerpanel. Sources: UKGTN