Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Marked gene: CDKN1C as ready
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.89 CDKN1C Zornitza Stark Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732 to Beckwith-Wiedemann syndrome 130650
Vascular Malformations_Germline v0.88 CDKN1C Zornitza Stark Classified gene: CDKN1C as Amber List (moderate evidence)
Vascular Malformations_Germline v0.88 CDKN1C Zornitza Stark Gene: cdkn1c has been classified as Amber List (Moderate Evidence).
Vascular Malformations_Germline v0.87 CDKN1C Zornitza Stark reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM# 130650; Mode of inheritance: None
Vascular Malformations_Germline v0.13 CDKN1C Bryony Thompson gene: CDKN1C was added
gene: CDKN1C was added to Vascular Malformations_RMH. Sources: Expert list
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome 130650; IMAGE syndrome 614732
Review for gene: CDKN1C was set to RED
Added comment: It's not clearly reported that vascular malformations are a prominent feature of either of the conditions associated with this gene.
Sources: Expert list