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Inborn errors of metabolism

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

Sarah Leigh (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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • NHS GMS
Phenotypes
  • 2-methylbutyrylglycinuria 610006
  • 2-Methylbutyric aciduria (Organic acidurias)
OMIM
600301
Clinvar variants
Variants in ACADSB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ACADSB. Source London North GLH was added to ACADSB.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ACADSB was added gene: ACADSB was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 27604308 Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria 610006; 2-Methylbutyric aciduria (Organic acidurias)