Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability - microarray and sequencing v3.1511 VARS2 Arina Puzriakova Tag for-review was removed from gene: VARS2.
Intellectual disability - microarray and sequencing v3.1510 VARS2 Sarah Leigh commented on gene: VARS2
Intellectual disability - microarray and sequencing v3.1509 VARS2 Arina Puzriakova Source Expert Review Green was added to VARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.300 VARS2 Arina Puzriakova Classified gene: VARS2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.300 VARS2 Arina Puzriakova Added comment: Comment on list classification: There is enough evidence to rate this gene GREEN at the next major review - >3 unrelated families with different variants. Severe psychomotor delay was an early and significant manifestation on clinical evaluation.
Intellectual disability - microarray and sequencing v3.300 VARS2 Arina Puzriakova Gene: vars2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.299 VARS2 Arina Puzriakova Tag for-review tag was added to gene: VARS2.
Intellectual disability - microarray and sequencing v3.3 VARS2 Zornitza Stark gene: VARS2 was added
gene: VARS2 was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VARS2 were set to 24827421; 25058219; 29137650; 29314548; 31064326
Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM #615917
Review for gene: VARS2 was set to GREEN
gene: VARS2 was marked as current diagnostic
Added comment: ID is part of the phenotype of this metabolic disorder.
Sources: Expert list