Skeletal dysplasiaGene: CDKN1C
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, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted?? No - Paternally imprinted
IMAGE syndrome 614732
Comment on mode of inheritance: Updating mode of inheritance to reflect expert reviewer's recommendation
Created: 8 May 2019, 1:59 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CDKN1C; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 11 Jul 2016, 12:54 p.m.
Comment on phenotypes: Variants also reported for Beckwith-Wiedemann syndrome 130650, but not relevant to this panel
Created: 11 Jul 2016, 12:53 p.m.
Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Added phenotypes IMAGE syndrome 614732 for gene: CDKN1C
Source NHS GMS was added to CDKN1C. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CDKN1C were set to IMAGE syndrome 614732
Mode of inheritance for CDKN1C was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
CDKN1C was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
CDKN1C was created by sleigh
CDKN1C was added to Unexplained skeletal dysplasiapanel. Sources: