IUGR and IGF abnormalities
Gene: CDKN1CEnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels
4 reviews
Mehul Dattani (UCL Institute of Child Health)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Philip Murray (University of Manchester)
Peter Clayton (University of Manchester)
emma baple (Genomics England Curator)
Comment on mode of inheritance: Also CNV's consider when we can do themCreated: 10 May 2016, 9:22 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies
- OMIM
- 600856
- Clinvar variants
- Variants in CDKN1C
- Penetrance
- Complete
- Panels with this gene
-
- Segmental overgrowth disorders - Deep sequencing
- Skeletal dysplasia
- Sarcoma cancer susceptibility
- Osteogenesis imperfecta
- Monogenic short stature
- Embryonal tumour of possible germline origin
- Clefting
- Congenital adrenal hypoplasia
- Fetal anomalies
- Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
- Silver Russell syndrome
- Familial rhabdomyosarcoma
- Differences in sex development
- Sarcoma susceptibility
- Intellectual disability
- Beckwith-Wiedemann syndrome
- IUGR and IGF abnormalities
- Childhood solid tumours
- DDG2P
- Childhood solid tumours cancer susceptibility
History Filter Activity
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Set Mode of Inheritance
emma baple (Genomics England Curator)Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()CDKN1C was added to IUGR and IGF abnormalitiespanel. Sources: UKGTN