ITPR2

inositol 1,4,5-trisphosphate receptor type 2
OMIM: 600144, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red ITPR2 in Mendeliome


Version 1.4516

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • isolated anhidrosis with normal sweat glands MONDO:0007118