PanelApp (test)
  1. Genes and Genomic Entities
  2. DHODH:Ensemblv90

DHODH:Ensemblv90

dihydroorotate dehydrogenase (quinone)
OMIM: 126064, ClinGen, DECIPHER

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Green DHODH in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome, MIM# 263750

Green DHODH in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome, MIM# 263750

Green DHODH in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.57

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome, MIM# 263750

Green DHODH in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Miller syndrome (postaxial acrofacial dysostosis) 263750

Green DHODH in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Miller syndrome, 263750 (3)

Green DHODH in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Miller syndrome, MIM# 263750

Green DHODH in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 1.59

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Miller syndrome MIM#263750
    • Disorders of pyrimidine metabolism

    Green DHODH in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.80

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews 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

    Green DHODH in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Miller syndrome, MIM# 263750

    Green DHODH in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Miller syndrome, 263750 (3)

    Green DHODH in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Miller syndrome MIM#263750
    • Disorders of pyrimidine metabolism

    Green DHODH in Mandibulofacial Acrofacial dysostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Miller syndrome, MIM# 263750

    Green DHODH in Pierre Robin Sequence


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Miller syndrome, MIM# 263750

    Green DHODH in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Miller syndrome (postaxial acrofacial dysostosis) 263750

    Green DHODH in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Miller syndrome, 263750 (3)

    Green DHODH in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Miller syndrome, MIM# 263750

    Green DHODH in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Miller syndrome MIM#263750
    • Disorders of pyrimidine metabolism

    Green DHODH in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • Expert list
    Phenotypes
    • Miller syndrome (postaxial acrofacial dysostosis) 263750

    Green DHODH in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Miller syndrome, 263750 (3)

    Green DHODH in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • NHS GMS
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Miller syndrome MIM#263750
    • Disorders of pyrimidine metabolism