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Inborn errors of metabolism

Gene: DHODH

Green List (high evidence)

DHODH (dihydroorotate dehydrogenase (quinone))
EnsemblGeneIds (GRCh38): ENSG00000102967
EnsemblGeneIds (GRCh37): ENSG00000102967
OMIM: 126064, Gene2Phenotype
DHODH is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

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).
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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Miller syndrome 263750
OMIM
126064
Clinvar variants
Variants in DHODH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dhodh has been classified as Green List (High Evidence).

12 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DHODH were set to 27604308

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DHODH. Source London North GLH was added to DHODH.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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)