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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. DHODH
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GMS Musculoskeletal specialist test group Skeletal dysplasia

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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD. Several cases.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Miller syndrome (postaxial acrofacial dysostosis) 263750

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Miller syndrome (postaxial acrofacial dysostosis) 263750
OMIM
126064
Clinvar variants
Variants in DHODH
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: DHODH was added gene: DHODH was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHODH were set to Miller syndrome (postaxial acrofacial dysostosis) 263750