Monogenic hearing loss
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
2 reviews
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#610755:Multiple endocrine neoplasia, type IV[Bronchial carcinoid; Renal angiomyolipoma; AcromegalyPituitary adenomaParathyroid adenomaCarcinoid tumors NEOPLASM : Pancreatic endocrine neoplasmPapillary thyroid cancerNeuroendocrine cervical carcinoma]
Publications
- PMID:10051332
- 10491417
- 10557343
- 10559916
- 10783894
- 11175773
- 11175795
- 11371649
- 11565035
- 11815629
- 12036912
- 12244301
- 12244302
- 12244303
- 12837699
- 15026335
- 15531880
- 15583032
- 15685168
- 15728451
- 16791196
- 16864777
- 17030811
- 17114283
- 17254966
- 17254967
- 17519308
- 17626791
- 18155131
- 18311148
- 19273599
- 20081832
- 20237562
- 20824794
- 22129891
- 22586611
- 23505216
- 23555276
- 24185511
- 24819502
- 7758941
- 7795247
- 8033212
- 8033213
- 8522324
- 8530100
- 8646781
- 9192873
- 9660939
Details
- Sources
-
- Expert
- 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
24 Jun 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1B was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert