Possible mitochondrial disorder - nuclear genes
Gene: ACADSB

ACADSB (acyl-CoA dehydrogenase short/branched chain)
EnsemblGeneIds (GRCh38): ENSG00000196177
EnsemblGeneIds (GRCh37): ENSG00000196177
OMIM: 600301, Gene2Phenotype
ACADSB is in 6 panels

1 review

Ivone Leong (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: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-methylbutyrylglycinuria, 610006

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

2-methylbutyrylglycinuria, 610006

OMIM

600301

Clinvar variants

Variants in ACADSB

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ACADSB was added gene: ACADSB was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006

Possible mitochondrial disorder - nuclear genes Gene: ACADSB