Childhood solid tumours cancer susceptibility
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumour suppressor.Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Beckwith-Wiedemann syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Beckwith-Wiedemann syndrome
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Sarcoma cancer susceptibility
- Clefting
- Differences in sex development
- Skeletal dysplasia
- Monogenic short stature
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Wilms tumour with features suggestive of predisposition
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Congenital adrenal hypoplasia
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Osteogenesis imperfecta
- Intellectual disability
- IUGR and IGF abnormalities
- Fetal anomalies
- DDG2P
- Beckwith-Wiedemann syndrome
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set mode of inheritance
Sarah Leigh (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)
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumour suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Childhood solid tumourspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)CDKN1C was added to Childhood solid tumourspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)CDKN1C was created by ellenmcdonagh