Sarcoma cancer susceptibility
Gene: CDKN1C
CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
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)
<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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Expert Review Amber
- Phenotypes
-
- Beckwith-Wiedemann syndrome, 130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Sarcoma cancer susceptibility
- Intellectual disability
- Differences in sex development
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Wilms tumour with features suggestive of predisposition
- Congenital adrenal hypoplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Childhood solid tumours
- IUGR and IGF abnormalities
- Fetal anomalies
- Beckwith-Wiedemann syndrome
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
History Filter Activity
13 Mar 2019, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: CDKN1C was added gene: CDKN1C was added to Sarcoma pertinent cancer susceptibility. Sources: Expert Review Amber,Literature 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