CTH

cystathionine gamma-lyase
OMIM: 607657, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CTH in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystathioninuria MIM#219500

Amber CTH in Miscellaneous Metabolic Disorders


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cystathioninuria MIM#219500

Green CTH in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • cystathioninuria MONDO:0009058