Additional findings_Paediatric
Gene: ACSF3

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

1 review

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.

Not appropriate for a screening panel.
Created: 8 Feb 2021, 7:21 a.m. | Last Modified: 8 Feb 2021, 7:21 a.m.

Panel Version: 0.193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined malonic and methylmalonic aciduria MIM#614265

Publications

Created: 8 Feb 2021, 7:21 a.m.
Last Modified: 8 Feb 2021, 7:21 a.m.
Panel version: 0.193

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
BabySeq Category A gene

Phenotypes

Combined malonic and methylmalonic aciduria

OMIM

614245

Clinvar variants

Variants in ACSF3

Penetrance

None

Publications

Panels with this gene