Likely inborn error of metabolism - targeted testing not possible
Gene: DHODHComment 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 11 variants reported in 6 families (PMID 19915526), together with a knockout mouse model (PMID 27626380).Created: 12 Aug 2019, 4:19 p.m. | Last Modified: 12 Aug 2019, 4:19 p.m.
Panel Version: 1.113
Comment on phenotypes: Unexplained skeletal dysplasia;Bilateral microtia;Deafness and congenital structural abnormalities;Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism)Created: 12 Aug 2019, 3:59 p.m. | Last Modified: 12 Aug 2019, 3:59 p.m.
Panel Version: 1.111
Gene: dhodh has been classified as Green List (High Evidence).
Publications for gene: DHODH were set to 27604308
Phenotypes for gene: DHODH were changed from Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism) to Miller syndrome 263750
Source NHS GMS was added to DHODH. Source London North GLH was added to DHODH.
Sarah Leigh: Associated with relevant pheno
gene: DHODH was added gene: DHODH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 27604308 Phenotypes for gene: DHODH were set to Unexplained skeletal dysplasia; Bilateral microtia; Deafness and congenital structural abnormalities; Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism)