CA12

carbonic anhydrase 12
OMIM: 603263, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green CA12 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperchlorhidrosis, isolated MIM#143860

Green CA12 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperchlorhidrosis, isolated MIM#143860
Tags
  • treatable
  • metabolic