FOCAD

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Amber FOCAD in Cholestasis Level 2: Gastrohepatology Version 4.11 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
Amber FOCAD in Likely inborn error of metabolism Level 2: Metabolic Version 9.18 Latest signed off version: v9.0 (6 May 2026) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 Q2_26_expert_review
Red FOCAD in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.7 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