ZNF143

zinc finger protein 143
OMIM: 603433, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ZNF143 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related

Red ZNF143 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined methylmalonic acidemia and homocystinuria, cblX like 1

Amber ZNF143 in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 1.6

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    • Expert Review Red
    • Expert Review
    Phenotypes
    • methylmalonic aciduria and homocystinuria MONDO:0016826