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Stroke

Gene: ACAD9

Green List (high evidence)
ACAD9 (acyl-CoA dehydrogenase family member 9)
EnsemblGeneIds (GRCh38): ENSG00000177646
EnsemblGeneIds (GRCh37): ENSG00000177646
OMIM: 611103, Gene2Phenotype
ACAD9 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, cerebellar stroke reported.
Created: 10 Mar 2021, 12:19 a.m. | Last Modified: 10 Mar 2021, 12:21 a.m.
Panel Version: 0.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126

Publications

Created: 10 Mar 2021, 12:19 a.m.
Last Modified: 10 Mar 2021, 12:21 a.m.
Panel version: 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126
Tags
treatable
OMIM
611103
Clinvar variants
Variants in ACAD9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ACAD9.

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: acad9 has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ACAD9 were changed from Acyl-CoA dehydrogenase family, member 9, deficiency of to Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126

10 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ACAD9 were set to

22 Apr 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ACAD9 was added gene: ACAD9 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAD9 were set to Acyl-CoA dehydrogenase family, member 9, deficiency of