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Date Panel Item Activity
8 actions
Intellectual disability v3.421 HMGCS2 Arina Puzriakova Source Expert Review Red was added to HMGCS2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Intellectual disability v3.252 HMGCS2 Arina Puzriakova commented on gene: HMGCS2
Intellectual disability v3.0 HMGCS2 Zornitza Stark reviewed gene: HMGCS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA synthase-2 deficiency, MIM# 605911; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability HMGCS2 BRIDGE consortium edited their review of HMGCS2
Intellectual disability HMGCS2 BRIDGE consortium edited their review of HMGCS2
Intellectual disability HMGCS2 Louise Daugherty classified HMGCS2 as amber
Intellectual disability HMGCS2 Louise Daugherty commented on HMGCS2
Intellectual disability HMGCS2 BRIDGE consortium reviewed HMGCS2