1. Panels
  2. Hand and foot malformations
  3. DHODH
STRs in panel
Prev Next
Regions in panel
Prev Next

Hand and foot malformations

Gene: DHODH

Green List (high evidence)
DHODH (dihydroorotate dehydrogenase (quinone))
EnsemblGeneIds (GRCh38): ENSG00000102967
EnsemblGeneIds (GRCh37): ENSG00000102967
OMIM: 126064, Gene2Phenotype
DHODH is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples. Multiple families reported.
Created: 13 Feb 2021, 9:18 a.m. | Last Modified: 13 Feb 2021, 9:18 a.m.
Panel Version: 0.6356

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Miller syndrome, MIM# 263750

Publications

Created: 13 Feb 2021, 9:18 a.m.
Last Modified: 13 Feb 2021, 9:18 a.m.
Panel version: Imported from Mendeliome panel version 0.6356

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases reported. Biallelic variants cause an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Created: 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

Created: 3 Feb 2021, 2:52 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.127

Details

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

History Filter Activity

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DHODH was added gene: DHODH was added to Hand and foot malformation. Sources: Expert Review Green,Expert list 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