ACSF3

acyl-CoA synthetase family member 3
OMIM: 614245, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red ACSF3 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green ACSF3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Literature Phenotypes Combined methylmalonic and malonic aciduria (Organic acidurias) Combined malonic and methylmalonic aciduria 614265
Green ACSF3 in Likely inborn error of metabolism Level 2: Metabolic Version 8.100 Latest signed off version: v8.0 (30 Apr 2025) 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 London North GLH NHS GMS Expert Review Green Phenotypes Combined malonic and methylmalonic aciduria, OMIM:614265
Red ACSF3 in Intellectual disability Level 2: Developmental disorders Version 9.327 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Combined malonic and methylmalonic aciduria, 614265
Amber ACSF3 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Combined malonic and methylmalonic aciduria, 614265