Sarcoma susceptibility
Gene: CDKN1CComment on phenotypes: This gene is also associated with IMAGE syndrome, OMIM:614732Created: 11 Mar 2021, 11:08 a.m. | Last Modified: 11 Mar 2021, 11:08 a.m.
Panel Version: 1.31
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
<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
Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650 to Beckwith-Wiedemann syndrome, OMIM:130650; Rhabdomyosarcoma (disease), MONDO:0005212
Source NHS GMS was added to CDKN1C.
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