Mitochondrial disease
Gene: ACADSEnsemblGeneIds (GRCh38): ENSG00000122971
EnsemblGeneIds (GRCh37): ENSG00000122971
OMIM: 606885, Gene2Phenotype
ACADS is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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)
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, LiteratureCreated: 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
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acads has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acads has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acads has been classified as Green List (High Evidence).
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