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| Likely inborn error of metabolism - targeted testing not possible v1.113 | DHODH | Sarah Leigh Classified gene: DHODH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.113 | DHODH |
Sarah Leigh Added comment: Comment 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). |
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| Likely inborn error of metabolism - targeted testing not possible v1.113 | DHODH | Sarah Leigh Gene: dhodh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.112 | DHODH | Sarah Leigh Publications for gene: DHODH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.111 | DHODH | Sarah Leigh Added comment: Comment on phenotypes: Unexplained skeletal dysplasia;Bilateral microtia;Deafness and congenital structural abnormalities;Dihydroorotate dehydrogenase deficiency (Disorders of pyrimidine metabolism) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.111 | DHODH | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | DHODH |
Ivone Leong Source NHS GMS was added to DHODH. Source London North GLH was added to DHODH. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | DHODH |
Ellen McDonagh 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) |
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