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Prepair 1000+

Gene: ACSF3

Red List (low evidence)

ACSF3 (acyl-CoA synthetase family member 3)
EnsemblGeneIds (GRCh38): ENSG00000176715
EnsemblGeneIds (GRCh37): ENSG00000176715
OMIM: 614245, Gene2Phenotype
ACSF3 is in 7 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Red List (low evidence)

Not suitable for screening. Condition causes controversy and clinical significance of phenotype is unclear; affected individuals are either asymptomatic or do not have a consistent spectrum of features, therefore this is most likely a benign condition (PMID: 30740739). Some present in early childhood with metabolic symptoms, others in adulthood with neurological symptoms, but there are also reports of patients with elevated MMA levels on NBS with confirmed variants in ACSF3 who followed a benign clinical course.
Created: 6 Feb 2025, 6:02 a.m. | Last Modified: 6 Feb 2025, 6:02 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined malonic and methylmalonic aciduria, MIM#614265

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Combined malonic and methylmalonic aciduria, MIM#614265
OMIM
614245
Clinvar variants
Variants in ACSF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acsf3 has been classified as Red List (Low Evidence).

7 Feb 2025, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACSF3 were set to

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACSF3 was added gene: ACSF3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Red Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, MIM#614265