Multiple endocrine tumours

Gene: CDKN1B

Green List (high evidence)

CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 11 panels

4 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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)

Green List (high evidence)

Katie Snape (South London GMC)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Treena Cranston (Oxford)

Green List (high evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Multiple endocrine neoplasia, type IV, 610755
  • Multiple Endocrine Neoplasia
  • Endocrine Cancer
OMIM
600778
Clinvar variants
Variants in CDKN1B
Penetrance
Complete
Panels with this gene

History Filter Activity

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CDKN1B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Aug 2015, Gel status: 3

Set Mode of Inheritance

Eik Haraldsdottir (Genomics England)

Model of inheritance for gene CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Aug 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CDKN1B was added to Multiple endocrine tumourspanel. Source: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CDKN1B was added to Multiple endocrine tumourspanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CDKN1B was added to Multiple endocrine tumourspanel. Sources: Radboud University Medical Center, Nijmegen