Disorders of sex development
Gene: CDKN1C
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Comment when marking as ready: Associated with both phenotypes in OMIM and with Beckwith-Wiedemann syndrome 130650 in G2P / DD. At least six variants reported in Beckwith-Wiedemann syndrome 130650 and five in IMAGE syndrome, 614732.Created: 13 Sep 2016, 11:36 a.m.
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for gene CDKN1C were set to IMAGE syndrome, 614732; Beckwith-Wiedemann syndrome 130650; Disproportionate Short Stature and Wilms Tumor: Sequencing Panels (Emory)
CDKN1C was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Other
CDKN1CAll sources for gene: CDKN1C were removed
CDKN1C was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
CDKN1C was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
CDKN1C was added to Disorders of sex developmentpanel. Source: Emory Genetics Laboratory
CDKN1C was added to Disorders of sex developmentpanel. Sources: UKGTN,Other
CDKN1C was created by sleigh