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  2. Fatty Acid Oxidation Defects
  3. ACADS
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Fatty Acid Oxidation Defects

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

1 review

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: 29 Jul 2020, 3:31 a.m. | Last Modified: 24 Aug 2022, 8:11 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 29 Jul 2020, 3:31 a.m.
Last Modified: 24 Aug 2022, 8:11 a.m.
Panel version: 1.7

Details

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

History Filter Activity

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).

19 Dec 2021, Gel status: 3

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

29 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ACADS was added gene: ACADS was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACADS was set to Unknown