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Likely inborn error of metabolism

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

3 reviews

Arina Puzriakova (Genomics England Curator)

ACSF3 associated with combined malonic and methylmalonic acidemia in ClinGen (definitive) and OMIM, but in not currently included in G2P. Variants in this gene have been reported in at least 26 probands in six publications (PMIDs: 21785126, 26915364, 30740739, 26827111, 27604308, 21841779). All of these probands show evidence of the biochemical abnormalities characteristic of this disorder, however many of them do not demonstrate any additional phenotypic abnormalities.

Based on the current evidence, the IEM panel is the most relevant for capturing this disorder, providing support for maintaining the Green classification on this panel.
Created: 14 Nov 2024, 12:04 p.m. | Last Modified: 14 Nov 2024, 12:04 p.m.
Panel Version: 7.4
Created: 14 Nov 2024, 12:04 p.m.
Last Modified: 14 Nov 2024, 12:04 p.m.
Panel version: 7.4

Zornitza Stark (Australian Genomics)

I don't know

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.
Created: 8 Feb 2021, 6:48 a.m. | Last Modified: 8 Feb 2021, 6:48 a.m.
Panel Version: 2.51

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined malonic and methylmalonic aciduria MIM#614265

Publications

Created: 8 Feb 2021, 6:48 a.m.
Last Modified: 8 Feb 2021, 6:48 a.m.
Panel version: 2.51

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 10 variants reported
Created: 12 Jan 2017, 12:23 p.m.
Created: 12 Jan 2017, 12:23 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined malonic and methylmalonic aciduria, OMIM:614265
OMIM
614245
Clinvar variants
Variants in ACSF3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Nov 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACSF3 were set to 21785126; 26915364; 30740739; 26827111; 27604308; 21841779

14 Nov 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ACSF3 were changed from Combined methylmalonic and malonic aciduria (Organic acidurias); Combined malonic and methylmalonic aciduria to Combined malonic and methylmalonic aciduria, OMIM:614265

14 Nov 2024, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACSF3 were set to 27604308

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACSF3. Source London North GLH was added to ACSF3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 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 Inborn errors of metabolism. 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