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  3. ACADS
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Callosome

Gene: ACADS

Red List (low 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)

Red List (low evidence)

Largely just causes a biochemical abnormality, and association with clinical disease is debated. CC abnormalities are not a feature.
Created: 24 Aug 2022, 8:15 a.m. | Last Modified: 24 Aug 2022, 8:15 a.m.
Panel Version: 0.457

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 24 Aug 2022, 8:15 a.m.
Last Modified: 24 Aug 2022, 8:15 a.m.
Panel version: 0.457

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acads has been classified as Red List (Low Evidence).

24 Aug 2022, Gel status: 1

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; MONDO:0008722

24 Aug 2022, Gel status: 1

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

24 Aug 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acads has been classified as Red List (Low Evidence).

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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACADS was set to Unknown