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Hearing loss

Gene: CDKN1B

Red List (low evidence)

CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 10 panels

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

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