GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CDKN1C

CDKN1C (cyclin dependent kinase inhibitor 1C)
EnsemblGeneIds (GRCh38): ENSG00000129757
EnsemblGeneIds (GRCh37): ENSG00000129757
OMIM: 600856, Gene2Phenotype
CDKN1C is in 20 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in Slender bone dysplasia gp of SD. Greater than 3 cases reported: variants cluster near the PCNA-binding domain. Only maternal transmission results in IMAGE - imprinted. Gene also associated with Beckwith-Wiedeman syndrome 130650; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted

Phenotypes
IMAGE syndrome 614732

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

IMAGE syndrome 614732

OMIM

600856

Clinvar variants

Variants in CDKN1C

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: CDKN1C was added gene: CDKN1C was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted Phenotypes for gene: CDKN1C were set to IMAGE syndrome 614732

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: CDKN1C