Miscellaneous Metabolic Disorders
Gene: DHODHEnsemblGeneIds (GRCh38): ENSG00000102967
EnsemblGeneIds (GRCh37): ENSG00000102967
OMIM: 126064, Gene2Phenotype
DHODH is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
>3 cases reported. Biallelic variants cause an inborn error of pyrimidine metabolism.
Sources: NHS GMSCreated: 3 Feb 2021, 2:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miller syndrome MIM#263750; Disorders of pyrimidine metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Miller syndrome MIM#263750
- Disorders of pyrimidine metabolism
- OMIM
- 126064
- Clinvar variants
- Variants in DHODH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dhodh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dhodh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DHODH was added gene: DHODH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHODH were set to 19915526 Phenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism Review for gene: DHODH was set to GREEN gene: DHODH was marked as current diagnostic