Familial rhabdomyosarcoma
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
1 review
Helen Brittain (Genomics England Curator)
<1 percent of all BWS patients present with rhabdomyosarcoma. Therefore it is a rare complication. Reviewed with Clare Turnbull and Gareth Evans for consensus.Created: 21 Dec 2017, 10:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Beckwith-Wiedemann syndrome, 130650
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Beckwith-Wiedemann syndrome, 130650
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Sarcoma cancer susceptibility
- Differences in sex development
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- 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
- Skeletal dysplasia
- Fetal anomalies
- Beckwith-Wiedemann syndrome
- Childhood solid tumours cancer susceptibility
- Intellectual disability
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)21st December 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation by Helen Brittain.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for CDKN1C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for CDKN1C were set to Beckwith-Wiedemann syndrome, 130650
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)CDKN1C was added to Familial rhabdomyosarcoma panel. Sources: Literature
Created
Louise Daugherty (Genomics England Curator)CDKN1C was created by Louise Daugherty