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  3. ACSF3
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Mackenzie's Mission_Reproductive Carrier Screening

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec.

Agree with review by Sarah.
Created: 8 Feb 2021, 6:51 a.m. | Last Modified: 8 Feb 2021, 6:51 a.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined malonic and methylmalonic aciduria MIM#614265

Publications

Created: 8 Feb 2021, 6:51 a.m.
Last Modified: 8 Feb 2021, 6:51 a.m.
Panel version: 0.50

Sarah Righetti (University of New South Wales)

Red List (low evidence)

Condition causes controversy; 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.

This gene is not suitable for inclusion in a population-wide carrier screening panel.
Created: 4 Feb 2021, 3:15 a.m. | Last Modified: 4 Feb 2021, 3:15 a.m.
Panel Version: 0.50

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined malonic and methylmalonic aciduria, MIM#614265

Publications

Created: 4 Feb 2021, 3:15 a.m.
Last Modified: 4 Feb 2021, 3:15 a.m.
Panel version: 0.50

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
Panels with this gene

History Filter Activity

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

15 Apr 2021, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: ACSF3 were changed from Combined malonic and methylmalonic aciduria, 614265 (3) to Combined malonic and methylmalonic aciduria, MIM#614265

15 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

19 Apr 2020, Gel status: 3

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 Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green 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, 614265 (3)