Mitochondrial disease
Gene: ACADSBEnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 7 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
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
Bryony Thompson (Royal Melbourne Hospital)
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.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 6:32 a.m.
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
- Expert Review Green
- Literature
- NHS GMS
- Phenotypes
-
- 2-methylbutyrylglycinuria MIM#610006
- OMIM
- 600301
- Clinvar variants
- Variants in ACADSB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadsb has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: acadsb has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ACADSB was added gene: ACADSB was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 25778941; 17945527 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006 Review for gene: ACADSB was set to GREEN