1. Genes and Genomic Entities
  2. CA5A

CA5A

carbonic anhydrase 5A
OMIM: 114761, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CA5A in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency 615751
Green CA5A in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
  • Hyperammonemia due to carbonic anhydrase VA deficiency
Green CA5A in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
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 Green
    • NHS GMS
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency
    • Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
    Green CA5A in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
    Amber CA5A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.7
    Latest signed off version: v7.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY
    Green CA5A 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
    Red CA5A in Intellectual disability


    Level 2: Developmental disorders
    Version 10.16
    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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
    Green CA5A in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
    Red CA5A in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH