Fatty Acid Oxidation Defects
Gene: ACADSB
ACADSB (acyl-CoA dehydrogenase short/branched chain)
EnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
The enzyme catalyses the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. SBCAD deficiency is symptomatic in about 10% of reported patients.
Sources: Expert listCreated: 23 Apr 2020, 12:40 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 list
- Phenotypes
-
- 2-methylbutyrylglycinuria MIM#610006
- OMIM
- 600301
- Clinvar variants
- Variants in ACADSB
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
29 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadsb has been classified as Green List (High Evidence).
29 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: acadsb has been classified as Green List (High Evidence).
23 Apr 2020, Gel status: 1
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 Fatty Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 11013134; 17945527; 30730842 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria MIM#610006 Review for gene: ACADSB was set to GREEN