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Hyperammonaemia

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, 1:38 a.m. | Last Modified: 15 Mar 2022, 1:38 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isovaleric acidaemia, MIM# 243500

Publications

Created: 15 Mar 2022, 1:38 a.m.
Last Modified: 15 Mar 2022, 1:38 a.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Isovaleric acidaemia, MIM# 243500
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.

15 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IVD were changed from Isovaleric acidemia 243500 to Isovaleric acidaemia, MIM# 243500

15 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IVD was added gene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913 Phenotypes for gene: IVD were set to Isovaleric acidemia 243500