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Mitochondrial disease

Gene: ACADS

Amber List (moderate evidence)

ACADS (acyl-CoA dehydrogenase short chain)
EnsemblGeneIds (GRCh38): ENSG00000122971
EnsemblGeneIds (GRCh37): ENSG00000122971
OMIM: 606885, Gene2Phenotype
ACADS is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.
Created: 24 Aug 2022, 8:13 a.m. | Last Modified: 24 Aug 2022, 8:13 a.m.
Panel Version: 0.832

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >10 cases reported.
Sources: NHS GMS, Literature
Created: 21 Mar 2020, 6:18 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
  • MONDO:0008722
OMIM
606885
Clinvar variants
Variants in ACADS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722

24 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acads has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acads has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACADS was added gene: ACADS was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADS were set to 25778941; 2808706; 29678161 Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 Review for gene: ACADS was set to GREEN