EZR:Ensemblv90

ezrin
OMIM: 123900, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red EZR in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 1.30

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital enteropathy, MONDO:0009173, EZR-related

Red EZR in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital enteropathy, MONDO:0009173

Red EZR in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Congenital enteropathy, MONDO:0009173, EZR-related