PanelApp (stage)
  1. Genes and Genomic Entities
  2. CAD

CAD

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CAD in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 50, MIM# 616457

Green CAD in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 50, MIM# 616457

    Green CAD in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 50, MIM# 616457

    Green CAD in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457

    Green CAD in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 50
    • OMIM # 616457

    Red CAD in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457

    Green CAD in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 50, MIM# 616457
    Tags
    • treatable
    • metabolic

    Green CAD in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.1

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 50, MIM# 616457