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  3. CDKN1B
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Facial papules

Gene: CDKN1B

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Included as MEN1 differential diagnosis
Created: 19 Jun 2023, 12:42 a.m. | Last Modified: 19 Jun 2023, 12:42 a.m.
Panel Version: 0.18
Overlapping phenotype with MEN1 with possible association with facial angiofibromas, but I couldn't find any evidence in the literature that these are present in individuals with MEN4.
Sources: Expert list
Created: 19 Jun 2023, 12:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
multiple endocrine neoplasia type 4 MONDO:0012552

Publications

Created: 19 Jun 2023, 12:41 a.m.

Panel version: 0.16

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • multiple endocrine neoplasia type 4 MONDO:0012552
OMIM
600778
Clinvar variants
Variants in CDKN1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cdkn1b has been classified as Amber List (Moderate Evidence).

19 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cdkn1b has been classified as Amber List (Moderate Evidence).

19 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cdkn1b has been classified as Amber List (Moderate Evidence).

19 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CDKN1B was added gene: CDKN1B was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN1B were set to 20301710 Phenotypes for gene: CDKN1B were set to multiple endocrine neoplasia type 4 MONDO:0012552 Review for gene: CDKN1B was set to AMBER