Likely inborn error of metabolism - targeted testing not possible
Gene: MOCS2Comment 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 and as confirmed Gen2Phen gene. At least 9 variants reported in at least 8 unrelated cases, together with supportive functional studies.Created: 19 Aug 2019, 11:10 a.m. | Last Modified: 19 Aug 2019, 11:10 a.m.
Panel Version: 1.184
Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)Created: 19 Aug 2019, 11:03 a.m. | Last Modified: 19 Aug 2019, 11:03 a.m.
Panel Version: 1.182
Gene: mocs2 has been classified as Green List (High Evidence).
Publications for gene: MOCS2 were set to 27604308
Phenotypes for gene: MOCS2 were changed from Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency B 252160
Source NHS GMS was added to MOCS2. Source London North GLH was added to MOCS2.
Sarah Leigh: Associated with relevant pheno
gene: MOCS2 was added gene: MOCS2 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 27604308 Phenotypes for gene: MOCS2 were set to Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)