CA12:Ensemblv90

carbonic anhydrase 12
OMIM: 603263, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CA12 in Mendeliome


Version 1.3802

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

Green CA12 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

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

Green CA12 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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