Deafness and congenital structural abnormalities

Gene: DHODH

Green List (high evidence)

DHODH (dihydroorotate dehydrogenase (quinone))
EnsemblGeneIds (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 variants
Created: 8 Sep 2016, 8:50 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

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)

Red List (low evidence)

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)

Green List (high evidence)

MIM 126064
Created: 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

26 Oct 2016, Gel status: 4

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.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

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

14 Oct 2016, Gel status: 4

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

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Oct 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DHODH was changed to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2016, Gel status: 4

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/

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DHODH were set to 19915526;1446837; 19915526; 20220176; 21430780; 8211381;PMC3870197; 22692683; 21851494

5 Oct 2016, Gel status: 4

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

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DHODH was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DHODH was created by sleigh