Sarcoma susceptibility

Gene: CDKN1C

Amber List (moderate evidence)

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was added to this panel after feedback from Laura King (Great Ormond Street Hospital, London) to include genes from the Familial rhabdomyosarcoma gene panel (code 290 version 1.4) and the Inherited predisposition to GIST gene panel (code 523, version 0.20). The highest rating for this gene from these two panels was Green, as captured here in this review.
Created: 13 Mar 2019, 2:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Beckwith-Wiedemann syndrome, 130650

Helen Brittain (Genomics England Curator)

Green List (high evidence)

<1 percent of all BWS patients present with rhabdomyosarcoma. Therefore it is a rare complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.
Created: 21 Dec 2017, 10:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Beckwith-Wiedemann syndrome, 130650

History Filter Activity

1 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CDKN1C.

23 Jul 2019, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CDKN1C was added gene: CDKN1C was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650