Diagnostic testing for Isovaleric acidaemia
Gene: IVD

IVD (isovaleryl-CoA dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000128928
EnsemblGeneIds (GRCh37): ENSG00000128928
OMIM: 607036, Gene2Phenotype
IVD is in 11 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

IVD has been added to the panel for R450 Diagnostic testing for Isovaleric acidaemia with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 29 May 2024, 11:51 a.m. | Last Modified: 29 May 2024, 11:51 a.m.

Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 29 May 2024, 11:51 a.m.
Last Modified: 29 May 2024, 11:51 a.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Isovaleric acidemia, OMIM:243500

OMIM

607036

Clinvar variants

Variants in IVD

Penetrance

None

Panels with this gene

History Filter Activity

29 May 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to IVD. Rating Changed from Red List (low evidence) to Green List (high evidence)

24 May 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IVD was added gene: IVD was added to Isovaleric acidaemia. Sources: NHS GMS Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IVD were set to Isovaleric acidemia, OMIM:243500

Diagnostic testing for Isovaleric acidaemia Gene: IVD