Silver Russell syndromeGene: CDKN1C
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that CDKN1C should be included on the panel. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: SRS/BWS.
Created: 14 May 2019, 1:25 p.m.
Comment on list classification: This gene is being demoted to red as pathogenicity is caused by changes to methylation of this gene
Created: 8 Jun 2016, 2:27 p.m.
Comment when marking as ready: Associated with phenotype (614732) in OMIM, not G2P. Found in 3/4 sources. One reviewer recommends Green. At least 5 variants reported in the literature.
Created: 8 Jun 2016, 12:26 p.m.
Comment on mode of pathogenicity: GOF variants result in increased stability which could explain an increased activity of CDKN1C
Created: 8 Jun 2016, 12:22 p.m.
gain of function mutations in PCNA domain associated with IMAGe and SRS
Created: 7 Jun 2016, 2:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for CDKN1C was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for CDKN1C were set to 8841187; 20503313; 10424811; 24065356; 22634751
Phenotypes for CDKN1C were set to Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732
CDKN1C was added to Silver Russell syndromepanel. Source: Emory Genetics Laboratory
CDKN1C was added to Silver Russell syndromepanel. Source: Radboud University Medical Center, Nijmegen
CDKN1C was added to Silver Russell syndromepanel. Sources: UKGTN
CDKN1C was created by sleigh