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Mitochondrial disorders

Gene: ACADS

Red List (low evidence)

ACADS (acyl-CoA dehydrogenase short chain)
EnsemblGeneIds (GRCh38): ENSG00000122971
EnsemblGeneIds (GRCh37): ENSG00000122971
OMIM: 606885, Gene2Phenotype
ACADS is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

Details

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

History Filter Activity

23 Jul 2019, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ACADS was added gene: ACADS was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470