FOCAD

focadhesin
OMIM: 614606, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber FOCAD in Cholestasis


Level 2: Gastrohepatology
Version 4.5
Latest signed off version: v4.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Liver disease, severe congenital, OMIM:619991
  • liver disease, severe congenital, MONDO:0859273
Tags
  • Q2_26_promote_green
Red FOCAD in Paediatric pseudo-obstruction syndrome


Level 2: Gastrohepatology
Version 2.6
Latest signed off version: v2.5 (6 May 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Chronic intestinal pseudoobstruction, MONDO:0017574