1. Genes and Genomic Entities
  2. CAD

CAD

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
OMIM: 114010, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CAD in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 9.3
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 50, OMIM:616457
    Red CAD in Congenital disorders of glycosylation


    Level 2: Metabolic
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Other
    Phenotypes
    • ?Congenital disorder of glycosylation, type Iz 616457
    Red CAD in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • ?Congenital disorder of glycosylation, type Iz 616457
    Red CAD in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.11
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Uridine-responsive epileptic encephalopathy
    Green CAD in DDG2P


    Version 7.1
    Latest signed off version: v7.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Uridine-responsive epileptic encephalopathy
    Green CAD in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.8
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 50, OMIM:616457
    Green CAD in Intellectual disability


    Level 2: Developmental disorders
    Version 10.18
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 50, OMIM:616457