BCHE

butyrylcholinesterase
OMIM: 177400, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green BCHE in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936

Green BCHE in Additional findings_Paediatric


Level 2: Screening
Version 0.278

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936

Green BCHE in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Butyrylcholinesterase deficiency, MIM# 617936
Tags
  • pharmacogenomic