PanelApp (stage)
  1. Genes and Genomic Entities
  2. CA5A

CA5A

carbonic anhydrase 5A
OMIM: 114761, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CA5A in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Tags
  • SV/CNV
  • treatable

Green CA5A in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751
    Tags
    • SV/CNV
    • treatable

    Red CA5A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751

    Green CA5A in Hyperammonaemia


    Level 2: Metabolic disorders
    Version 0.10

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency 615751

    Red CA5A in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751

    Green CA5A in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.128

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332

    Green CA5A in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BeginNGS
    Phenotypes
    • Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751
    Tags
    • treatable
    • metabolic