Deafness and congenital structural abnormalities
Gene: DHODHEnsemblGeneIds (GRCh38): ENSG00000102967
EnsemblGeneIds (GRCh37): ENSG00000102967
OMIM: 126064, Gene2Phenotype
DHODH is in 9 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.Created: 14 Oct 2016, 11:34 a.m.
Comment on mode of inheritance: Compound heterozygous cases.Created: 14 Oct 2016, 11:34 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:16 p.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Nine variants reported.Created: 8 Sep 2016, 8:50 a.m.
Comment on list classification: Expert review and report of nine variantsCreated: 8 Sep 2016, 8:50 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Miller syndrome; postaxial acrofacial dysostosis; raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small lower jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, “cup-shaped” ears; and/or absence of tissue (colobomas) from the lower eyelids.
Publications
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#263750:Miller syndrome [Postnatal growth deficiency; Micrognathia; Cup-shaped ears; Conductive hearing loss; Low-set ears; Downslanting palpebral fissure; Eyelid coloboma; Ectropion; Choanal atresia; Cleft lip; Cleft palate; Conical teeth; Pectus excavatum; Rib defects; Accessory nipples; Pyloric stenosis; Midgut malrotation; Micropenis; Cryptorchidism; Renal anomalies; Malar hypoplasia; Supernumerary vertebrae; Congenital hip dislocation; Ulnar hypoplasia; Radial hypoplasia; In-curving forearms; Radioulnar synostosis; Syndactyly; Thumb hypoplasia; Absence of fifth digit; Absence of fifth digit]
Publications
Maria Bitner-Glindzicz (UCL)
MIM 126064Created: 3 Feb 2016, 4:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Causes Miller syndrome with bilateral microtia; syndromic features
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Bilateral Microtia
- 263750
- Postaxial acrofacial dystostosis (POADS)
- Miller syndrome, 263750
- Causes Miller syndrome with bilateral microtia
- syndromic features
- Miller syndrome
- postaxial acrofacial dysostosis
- raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia)
- an abnormally small lower jaw (micrognathia)
- incomplete closure of the roof of the mouth (cleft palate)
- small, protruding, “cup-shaped” ears
- and/or absence of tissue (colobomas) from the lower eyelids
- OMIM
- 126064
- Clinvar variants
- Variants in DHODH
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DHODH were set to Bilateral Microtia; 263750; Postaxial acrofacial dystostosis (POADS); Miller syndrome, 263750; Causes Miller syndrome with bilateral microtia; syndromic features;Miller syndrome; postaxial acrofacial dysostosis; raniofacial abnormalities include underdevelopment of the cheekbones (malar hypoplasia); an abnormally small lower jaw (micrognathia); incomplete closure of the roof of the mouth (cleft palate); small, protruding, “cup-shaped” ears; and/or absence of tissue (colobomas) from the lower eyelids
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DHODH were set to Bilateral Microtia; 263750; Postaxial acrofacial dystostosis (POADS); Miller syndrome, 263750;Causes Miller syndrome with bilateral microtia; syndromic features
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DHODH was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DHODH were set to 19915526; 1446837; 19915526; 20220176; 21430780; 8211381; 22692683; 21851494;https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870197/
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DHODH were set to 19915526;1446837; 19915526; 20220176; 21430780; 8211381;PMC3870197; 22692683; 21851494
Added New Source
Sarah Leigh (Genomics England Curator)DHODH was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen DHODH was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)DHODH was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)DHODH was created by sleigh