Activity
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8 actions
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| Intellectual disability v3.1511 | VARS2 | Arina Puzriakova Tag for-review was removed from gene: VARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1510 | VARS2 | Sarah Leigh commented on gene: VARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability 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) |
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| Intellectual disability v3.300 | VARS2 | Arina Puzriakova Classified gene: VARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability 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 v3.300 | VARS2 | Arina Puzriakova Gene: vars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.299 | VARS2 | Arina Puzriakova Tag for-review tag was added to gene: VARS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability 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 |
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