Miscellaneous Metabolic Disorders

Gene: ACSF3

Amber List (moderate evidence)

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

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.
Sources: NHS GMS
Created: 22 Jan 2021, 4:54 a.m.

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 Amber
  • NHS GMS
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

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acsf3 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acsf3 has been classified as Amber List (Moderate Evidence).

22 Jan 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACSF3 was added gene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21841779; 30740739 Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265 Review for gene: ACSF3 was set to AMBER