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Molecular autopsy

Gene: ACSF3

Green List (high evidence)
ACSF3 (acyl-CoA synthetase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000176715
EnsemblGeneIds (GRCh37): ENSG00000176715
OMIM: 614245, Gene2Phenotype
ACSF3 is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined methylmalonic and malonic aciduria (Organic acidurias)
  • Combined malonic and methylmalonic aciduria
OMIM
614245
Clinvar variants
Variants in ACSF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria for gene: ACSF3

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ACSF3 was added gene: ACSF3 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 27604308 Phenotypes for gene: ACSF3 were set to Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria