Clefting disorders
Gene: DHODH
DHODH (dihydroorotate dehydrogenase (quinone))
EnsemblGeneIds (GRCh38): ENSG00000102967
EnsemblGeneIds (GRCh37): ENSG00000102967
OMIM: 126064, Gene2Phenotype
DHODH is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000102967
EnsemblGeneIds (GRCh37): ENSG00000102967
OMIM: 126064, Gene2Phenotype
DHODH is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 9:23 a.m. | Last Modified: 13 Feb 2021, 9:23 a.m.
Panel Version: 0.98
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miller syndrome, MIM# 263750
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Miller syndrome, MIM# 263750
- OMIM
- 126064
- Clinvar variants
- Variants in DHODH
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
13 Feb 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dhodh has been classified as Green List (High Evidence).
13 Feb 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DHODH were changed from POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS to Miller syndrome, MIM# 263750
13 Feb 2021, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DHODH were set to
16 Sep 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: DHODH was added gene: DHODH was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHODH were set to POADS = MILLER; POSTAXIAL ACROFACIAL DYSOSTOSIS