Skeletal dysplasia

Gene: CDKN1C

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, 11:44 a.m.

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

Phenotypes
IMAGE syndrome 614732

I don't know

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.

Green List (high evidence)

Tier 1

Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732

Variants in this GENE are reported as part of current diagnostic practice