This Panel is marked as Retired
Wilms tumour with features suggestive of predisposition
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
1 review
Eleanor Williams (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service. The mode of inheritance has been confirmed as "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)"Created: 8 Mar 2022, 2:29 p.m. | Last Modified: 8 Mar 2022, 2:29 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Phenotypes
-
- Beckwith-Wiedemann syndrome, OMIM:130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Skeletal dysplasia
- Sarcoma cancer susceptibility
- Osteogenesis imperfecta
- Monogenic short stature
- Embryonal tumour of possible germline origin
- Congenital adrenal hypoplasia
- DDG2P
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Differences in sex development
- Intellectual disability
- Sarcoma susceptibility
- Beckwith-Wiedemann syndrome
- IUGR and IGF abnormalities
- Childhood solid tumours
- Clefting
- Childhood solid tumours cancer susceptibility
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CDKN1C was added gene: CDKN1C was added to Wilms tumour with features suggestive of predisposition. Sources: Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: CDKN1C were set to 10424812 Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, OMIM:130650