1. Genes and Genomic Entities
  2. ALAD

ALAD

aminolevulinate dehydratase
OMIM: 125270, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green ALAD in Non-acute porphyrias


Version 1.24
Latest signed off version: v1.4 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Porphyria, acute hepatic OMIM:612740
  • porphyria due to ALA dehydratase deficiency MONDO:0013000
Green ALAD in Cutaneous photosensitivity with a likely genetic cause


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Lead poisoning, susceptibility to} 612740
  • Porphyria, acute hepatic 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
Green ALAD in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute hepatic 612740
  • {Lead poisoning, susceptibility to} 612740
Green ALAD in Likely inborn error of metabolism - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

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
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Lead poisoning, susceptibility to} 612740
    • Acute hepatic porphyria (Acute neuropathic porphyrias)
    • Porphyria, acute hepatic 612740
    Red ALAD in Fetal anomalies


    Version 3.169
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ACUTE HEPATIC PORPHYRIA
    Red ALAD in DDG2P


    Version 3.90
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • ACUTE HEPATIC PORPHYRIA 612740
    Amber ALAD in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.555
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Porphyria, acute hepatic, 612740
    • {Lead poisoning, susceptibility to}, 612740
    Red ALAD in Childhood onset dystonia, chorea or related movement disorder


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green ALAD in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Porphyria, acute hepatic, 612740