Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: ACADSB

Green List (high evidence)

ACADSB (acyl-CoA dehydrogenase short/branched chain)
EnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 7 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association

2-Methylbutyryl-CoA dehydrogenase (MBD) deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation, a mitochondrial disorder of fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Cases are usually asymptomatic, but can have neurological symptoms.
Created: 22 Mar 2022, 12:57 a.m. | Last Modified: 22 Mar 2022, 12:57 a.m.
Panel Version: 0.11708

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-methylbutyrylglycinuria MIM#610006

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 2-methylbutyrylglycinuria MIM#610006
OMIM
600301
Clinvar variants
Variants in ACADSB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

22 Mar 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria MIM#610006

22 Mar 2022, Gel status: 3

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ACADSB were set to

22 Mar 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ACADSB 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: ACADSB was added gene: ACADSB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACADSB was set to Unknown