1. Panels
  2. Likely inborn error of metabolism
  3. ACAD8
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Likely inborn error of metabolism

Gene: ACAD8

Green List (high evidence)
ACAD8 (acyl-CoA dehydrogenase family member 8)
EnsemblGeneIds (GRCh38): ENSG00000151498
EnsemblGeneIds (GRCh37): ENSG00000151498
OMIM: 604773, Gene2Phenotype
ACAD8 is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. At least 5 variants reported in at least 6 cases
Created: 23 Feb 2017, 5:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isobutyric aciduria (Organic acidurias)

Publications

Created: 23 Feb 2017, 5:11 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Isobutyric aciduria (Organic acidurias)
OMIM
604773
Clinvar variants
Variants in ACAD8
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 ACAD8. Source London North GLH was added to ACAD8.

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: ACAD8 was added gene: ACAD8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 27604308 Phenotypes for gene: ACAD8 were set to Isobutyric aciduria (Organic acidurias)