1. Genes and Genomic Entities
  2. CA2

CA2

carbonic anhydrase 2
OMIM: 611492, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CA2 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 6.3
Latest signed off version: v6.2 (12 Aug 2026)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
    Green CA2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 10.5
    Latest signed off version: v10.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
    Green CA2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
    Green CA2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
    Green CA2 in Renal tubulopathies


    Level 2: Renal
    Version 6.10
    Latest signed off version: v6.9 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
    • Osteopetrosis with Renal Tubular Acidosis
    Green CA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
    • OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3)
    • carbonic anhydrase II deficiency
    • intellectual disability
    Green CA2 in Osteopetrosis


    Level 2: Musculoskeletal
    Version 2.3
    Latest signed off version: v2.2 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis OMIM:259730