ACSF3

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber ACSF3 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Phenotypes Combined malonic and methylmalonic aciduria MIM#614265
Red ACSF3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Combined malonic and methylmalonic aciduria, MIM#614265
Red ACSF3 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Combined malonic and methylmalonic aciduria
Amber ACSF3 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.46 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Combined malonic and methylmalonic aciduria MIM#614265
Red ACSF3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Combined malonic and methylmalonic aciduria, MIM#614265
Green ACSF3 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes combined malonic and methylmalonic acidemia MONDO:0013661
Red ACSF3 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Combined malonic and methylmalonic aciduria