CA4

carbonic anhydrase 4
OMIM: 114760, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red CA4 in Mendeliome


Version 2.0

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 1.0

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