1. Panels
  2. Mitochondrial disorders
  3. ACADSB
Genes in panel
Prev Next
STRs in panel
Prev Next

Mitochondrial disorders

Gene: ACADSB

Red List (low evidence)
ACADSB (acyl-CoA dehydrogenase short/branched chain)
EnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 6 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
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
  • 2-methylbutyrylglycinuria, 610006
OMIM
600301
Clinvar variants
Variants in ACADSB
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: ACADSB was added gene: ACADSB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006