CA2

carbonic anhydrase 2
OMIM: 611492, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CA2 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.25
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.168
    Latest signed off version: v2.2 (13 Feb 2020)

    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


    Version 1.826
    Latest signed off version: v1.92 (21 Aug 2020)

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

    Green CA2 in DDG2P


    Version 2.60
    Latest signed off version: v2.2 (13 Feb 2020)

    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 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 2.30
    Latest signed off version: v2.23 (16 Oct 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • 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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1495
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 Severe Paediatric Disorders


    Version 1.115

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730

    Green CA2 in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.27
    Latest signed off version: v1.1 (21 Sep 2020)

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