TPI1

triosephosphate isomerase 1
OMIM: 190450, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TPI1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency, MIM# 615512

Green TPI1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)

Green TPI1 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512
  • chronic haemolytic anaemia
  • neuromuscular dysfunction
  • intracellular accumulation of dihydroxyacetone phosphate (DHAP)

Green TPI1 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)