Neuroendocrine cancer pertinent cancer susceptibility
Gene: CDKN1BEnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Monoallelic for Multiple endocrine neoplasia, type IV 610755.Created: 26 Jul 2017, 12:42 p.m.
Clare Turnbull (Queen Mary University London)
Phenotypes
Neuroendocrine cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Multiple endocrine neoplasia, type IV, OMIM:610755
- 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 Neuroendocrine cancer to Multiple endocrine neoplasia, type IV, OMIM:610755
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on mode of inheritance
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CDKN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1B was added to Neuroendocrine cancerpanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CDKN1B was created by ellenmcdonagh