Likely inborn error of metabolism - targeted testing not possible
Gene: MVKComment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in Hyper-IgD syndrome 260920, 9 variants reported in Mevalonic aciduria 610377 and 8 variants reported in Porokeratosis 3, multiple types 175900.Created: 19 Aug 2019, 12:13 p.m. | Last Modified: 19 Aug 2019, 12:13 p.m.
Panel Version: 1.190
Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Mevalonate kinase deficiency (Disorders of sterol biosynthesis)Created: 19 Aug 2019, 11:57 a.m. | Last Modified: 19 Aug 2019, 11:57 a.m.
Panel Version: 1.189
Phenotypes for gene: MVK were changed from Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900 to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377; Porokeratosis 3, multiple types, OMIM:175900
Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27604308
Gene: mvk has been classified as Green List (High Evidence).
Phenotypes for gene: MVK were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis) to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900
Source NHS GMS was added to MVK. Source London North GLH was added to MVK.
Sarah Leigh: Associated with relevant pheno
gene: MVK was added gene: MVK was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MVK were set to 27604308 Phenotypes for gene: MVK were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis)