CA4

carbonic anhydrase 4
OMIM: 114760, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CA4 in Mendeliome


Version 1.1891

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_Autosomal Dominant


Level 2: Ophthalmological disorders
Version 0.57

Component of the following Super Panels:

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