ACSF3

acyl-CoA synthetase family member 3
OMIM: 614245, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber ACSF3 in Mendeliome


Version 2.0

2 reviews 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 1.0

2 reviews 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 1.0

1 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 2.0

1 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 3.0

1 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 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • combined malonic and methylmalonic acidemia MONDO:0013661

Red ACSF3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Combined malonic and methylmalonic aciduria