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  3. ACAD8
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Aminoacidopathy

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 4 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 34544473 - Established gene disease association
Created: 15 Mar 2022, 4 a.m. | Last Modified: 15 Mar 2022, 4 a.m.
Panel Version: 0.11392

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isobutyryl-CoA dehydrogenase deficiency MIM#611283

Publications

Created: 15 Mar 2022, 4 a.m.
Last Modified: 15 Mar 2022, 4 a.m.
Panel version: Imported from Mendeliome panel version 0.11392

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Inborn error of valine metabolism. Isobutyryl-CoA dehydrogenase deficiency was identified in at least 9 cases in 8 families, 6 of the cases were asymptomatic at the time of the study.
Sources: NHS GMS
Created: 22 Jan 2021, 4:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isobutyryl-CoA dehydrogenase deficiency MIM#611283

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 Jan 2021, 4:36 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • isobutyryl-CoA dehydrogenase deficiency MONDO:0012648
OMIM
604773
Clinvar variants
Variants in ACAD8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acad8 has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ACAD8 were set to 29152456

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: acad8 has been classified as Green List (High Evidence).

2 Sep 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACAD8 was added gene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAD8 were set to 29152456 Phenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648