This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating. Mode of inheritance on TruSight panel: Autosomal dominant, parent-of-origin effectCreated: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Beckwith-Wiedemann Syndrome
- Embryonal tumors
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Sarcoma cancer susceptibility
- Intellectual disability
- DDG2P
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Segmental overgrowth disorders - Deep sequencing
- Embryonal tumour of possible germline origin
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Monogenic short stature
- IUGR and IGF abnormalities
- Childhood solid tumours
- Differences in sex development
- Congenital adrenal hypoplasia
- Clefting
- Beckwith-Wiedemann syndrome
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CDKN1C was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)