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  3. IVD
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Aminoacidopathy

Gene: IVD

Green List (high evidence)
IVD (isovaleryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Isovaleric acidaemia is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood.

Well established gene-disease association.
Created: 15 Mar 2022, 1:37 a.m. | Last Modified: 15 Mar 2022, 1:37 a.m.
Panel Version: 0.11366

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isovaleric acidaemia, MIM# 243500

Publications

Created: 15 Mar 2022, 1:37 a.m.
Last Modified: 15 Mar 2022, 1:37 a.m.
Panel version: Imported from Mendeliome panel version 0.11366

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • isovaleric acidemia MONDO:0009475
Tags
treatable
OMIM
607036
Clinvar variants
Variants in IVD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: IVD.

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: IVD were set to 29152456

2 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ivd 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: IVD was added gene: IVD was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 29152456 Phenotypes for gene: IVD were set to isovaleric acidemia MONDO:0009475