Endocrine neoplasia
Gene: CDKN1BEnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 11 Mar 2019, 2:04 p.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Louise IZATT (GSTT Clinical Genetics Service)
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Treena Cranston (Oxford)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Multiple endocrine neoplasia, type IV, OMIM:610755
- OMIM
- 600778
- Clinvar variants
- Variants in CDKN1B
- Penetrance
- None
- 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 Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755 to Multiple endocrine neoplasia, type IV, OMIM:610755
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdkn1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CDKN1B was added gene: CDKN1B was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1B were set to Endocrine Cancer; Multiple Endocrine Neoplasia; Multiple endocrine neoplasia, type IV, 610755