Hereditary ataxia - adult onsetGene: MVK
Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Phenotypes for gene: MVK were changed from Mevalonic aciduria 610377 to Mevalonic aciduria, OMIM:610377
Source Expert Review Red was added to MVK. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Louise Daugherty: Comment on phenotypes: Implica
gene: MVK was added gene: MVK was added to Hereditary ataxia - adult onset. Sources: Expert Review Amber,Hereditary ataxia v1.148 Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 24896178; 26503795 Phenotypes for gene: MVK were set to Mevalonic aciduria 610377