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  2. Pituitary Tumour
  3. CDKN1B
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Pituitary Tumour

Gene: CDKN1B

Green List (high evidence)
CDKN1B (cyclin dependent kinase inhibitor 1B)
EnsemblGeneIds (GRCh38): ENSG00000111276
EnsemblGeneIds (GRCh37): ENSG00000111276
OMIM: 600778, Gene2Phenotype
CDKN1B is in 8 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Pituitary tumour/adenomas reported in condition.
Sources: Expert list, Expert Review
Created: 26 Sep 2024, 2:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755

Created: 26 Sep 2024, 2:50 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Pituitary tumor, MONDO:0017611
  • Pituitary gland adenoma, MONDO:0006373
  • Multiple endocrine neoplasia type 4, MONDO:0012552
  • Multiple endocrine neoplasia, type 4, MIM#610755
OMIM
600778
Clinvar variants
Variants in CDKN1B
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdkn1b has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cdkn1b has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: cdkn1b has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: CDKN1B was added gene: CDKN1B was added to Pituitary Tumour. Sources: Expert list,Expert Review Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1B were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755 Review for gene: CDKN1B was set to GREEN