Deafness and congenital structural abnormalities
Gene: DHODHComment 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.
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.
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
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
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
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.
This gene has been classified as Green List (High Evidence).
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
Phenotypes for DHODH were set to Bilateral Microtia; 263750; Postaxial acrofacial dystostosis (POADS); Miller syndrome, 263750;Causes Miller syndrome with bilateral microtia; syndromic features
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DHODH was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for DHODH were set to 19915526; 1446837; 19915526; 20220176; 21430780; 8211381; 22692683; 21851494;https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3870197/
Publications for DHODH were set to 19915526;1446837; 19915526; 20220176; 21430780; 8211381;PMC3870197; 22692683; 21851494
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
DHODH was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
DHODH was created by sleigh