EMB:Ensemblv90

embigin
OMIM: 615669, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red EMB in Hirschsprung disease


Level 2: Gastroenterological disorders
Version 0.27

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease - MONDO:0018309, EMB-related

Red EMB in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease - MONDO:0018309, EMB-related

Red EMB in Hirschsprung disease


Level 2: Gastroenterological disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Hirschsprung disease - MONDO:0018309, EMB-related