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Intellectual disability

Gene: ACADSB

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Upgraded from Red to Amber as DD has been reported, but only in a subset of symptomatic cases.

Metabolic abnormalities should be a sufficient indication for testing, for which this gene is already rated Green.
Created: 25 Sep 2020, 3:35 p.m. | Last Modified: 25 Sep 2020, 3:35 p.m.
Panel Version: 3.339
To data, only 13 of reported patients were symptomatic (~10% of total). The main clinical symptoms at onset (age 3 days to 6 years) include seizures, developmental delay, hypotonia, and failure to thrive.
Created: 25 Sep 2020, 3:24 p.m. | Last Modified: 25 Sep 2020, 3:24 p.m.
Panel Version: 3.338

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-methylbutyrylglycinuria, 610006

Publications

Zornitza Stark (Australian Genomics)

I don't know

Some patients are reported as having DD; however can also be asymptomatic.
Created: 27 Jan 2020, 4:47 a.m. | Last Modified: 27 Jan 2020, 4:47 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2-methylbutyrylglycinuria, MIM# 610006

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • 2-methylbutyrylglycinuria, 610006
OMIM
600301
Clinvar variants
Variants in ACADSB
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

25 Sep 2020, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ACADSB was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: acadsb has been classified as Amber List (Moderate Evidence).

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACADSB was added gene: ACADSB was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: ACADSB was set to