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Intellectual disability

Gene: ACACA

Green List (high evidence)
ACACA (acetyl-CoA carboxylase alpha)
EnsemblGeneIds (GRCh38): ENSG00000278540
EnsemblGeneIds (GRCh37): ENSG00000132142
OMIM: 200350, Gene2Phenotype
ACACA is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11
ACACA variants have been associated with Acetyl-CoA carboxylase deficiency (OMIM: 613933), but not associated with phenotype in Gen2Phen. At least three reports of Acetyl-CoA carboxylase deficiency have been published (PMID: 6114432;34552920;36709796). However, genetic analysis was only possible in two of these cases; the resulting three ACACA variants were reported in two unrelated cases, demonstrating a biallelic mode of inheritance, with heterozygous ACACA variants in the unaffected parents (PMID: 34552920;36709796). In vitro functional studies, suggest that the level of ACACA expression is not severely affected, but revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate (PMID: 34552920). Furthermore, embryonic lethality was seen in mice who were homozygous for a knock-out ACACA variant, while those who were heterozygous for the variant presented with no obvious phenotypes (PMID: 16103361).
Created: 2 Jan 2024, 3:16 p.m. | Last Modified: 2 Jan 2024, 3:16 p.m.
Panel Version: 4.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 Jan 2024, 3:16 p.m.
Last Modified: 2 Jan 2024, 3:16 p.m.
Copied from panel: Likely inborn error of metabolism - targeted testing not possible v4.83

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 34552920 (2021) reported a baby who presented in her first two years of life with global developmental delay, microcephaly, hypotonia, and dysmorphic facial features. Two VUS's in ACACA were identified, and a decreased level of ACC1 and ACC1 enzyme activity was detected in patient-derived lymphocytes. In vitro studies revealed a disruption of lipid homeostasis in patient-derived lymphocytes, further inducing the deficit of cell motility capacity and that the deficiency could be partly attenuated by palmitate.
Sources: Literature
Created: 4 Dec 2023, 2:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acetyl-CoA carboxylase deficiency

Publications

Created: 4 Dec 2023, 2:03 p.m.

Copied from panel: Likely inborn error of metabolism - targeted testing not possible v4.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Acetyl-CoA carboxylase deficiency, OMIM: 613933
OMIM
200350
Clinvar variants
Variants in ACACA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: ACACA.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ACACA. Source NHS GMS was added to ACACA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 Jan 2024, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_23_NHS_review was removed from gene: ACACA.

2 Jan 2024, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: ACACA was added gene: ACACA was added to Intellectual disability - microarray and sequencing. Sources: Expert Review Amber,Literature Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: ACACA. Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACACA were set to 6114432; 34552920; 36709796 Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency, OMIM: 613933