Thyroid cancer pertinent cancer susceptibility
Gene: CDKN1BEnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels
1 review
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Changed MOI from 'biallelic to 'monoallelic'. Literature review did not indicate presence of biallelic variants pertaining to thyroid or parathyroid tumours. The MOI for this gene is also monoallelic in OMIM and other PanelApp panels.Created: 24 Sep 2021, 11 a.m. | Last Modified: 24 Sep 2021, 11 a.m.
Panel Version: 1.3
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Multiple endocrine neoplasia, type IV, OMIM:610755
- Thyroid cancer
- Pituitary adenoma
- OMIM
- 600778
- Clinvar variants
- Variants in CDKN1B
- Penetrance
- None
- Publications
- 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 mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CDKN1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDKN1B were changed from Thyroid cancer; Pituitary adenoma to Multiple endocrine neoplasia, type IV, OMIM:610755; Thyroid cancer; Pituitary adenoma
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: CDKN1B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)This Cancer Germline 100K panel has been subjected to extensive internal and external review and has been versioned to V1 to enable germline reporting in the Cancer Pipeline.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: CDKN1B were set to 17030811
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: cdkn1b has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1B was added to Thyroid cancer pertinent cancer susceptibility panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CDKN1B was created by Ellen McDonagh