CA4:Ensemblv90

carbonic anhydrase 4
OMIM: 114760, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red CA4 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 17, MIM# 600852

Red CA4 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 17, 600852
    Tags
    • disputed

    Red CA4 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 0.82

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 17, 600852
    Tags
    • disputed

    Red CA4 in Retinitis pigmentosa_Autosomal Dominant


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 17, 600852
    Tags
    • disputed