Embryonal tumour of possible germline origin
Gene: CDKN1C
CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 21 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
CDKN1C has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #130650) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Beckwith-Wiedemann syndrome, MONDO:0007534; Beckwith-Wiedemann syndrome, OMIM:130650
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Beckwith-Wiedemann syndrome, MONDO:0007534
- Beckwith-Wiedemann syndrome, OMIM:130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- DDG2P
- Sarcoma cancer susceptibility
- Skeletal dysplasia
- Clefting
- Differences in sex development
- Monogenic short stature
- 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
- Osteogenesis imperfecta
- Embryonal tumour of possible germline origin
- Childhood solid tumours
- IUGR and IGF abnormalities
- Beckwith-Wiedemann syndrome
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: CDKN1C was added gene: CDKN1C was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, MONDO:0007534; Beckwith-Wiedemann syndrome, OMIM:130650