Beckwith-Wiedemann syndrome
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #130650) and the OMIM record was last accessed on 17 December 2025.Created: 17 Dec 2025, 10:08 p.m. | Last Modified: 17 Dec 2025, 10:08 p.m.
Panel Version: 1.2
CDKN1C has been added to the panel for R49.3 Beckwith-Wiedemann syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 9:33 a.m. | Last Modified: 30 Jun 2023, 9:33 a.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Beckwith-Wiedemann syndrome, OMIM:130650
- Beckwith-Wiedemann syndrome, MONDO:0007534
- 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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CDKN1C were changed from to Beckwith-Wiedemann syndrome, OMIM:130650; Beckwith-Wiedemann syndrome, MONDO:0007534
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: CDKN1C was added gene: CDKN1C was added to Beckwith-Wiedemann syndrome. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown