Hyperammonaemia

Gene: IVD

Green List (high evidence)

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

3 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Isovaleric acidemia

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported. Variable phenotypes associated with variant spectrum (PMID 26018748).
Created: 21 Nov 2016, 4:15 p.m.
Comment on phenotypes: Phenotype relevant according to Peter Clayton (UCL Institute of Child Health)
Created: 21 Nov 2016, 4:02 p.m.

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Isovaleric acidemia 243500
OMIM
607036
Clinvar variants
Variants in IVD
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

21 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

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

21 Nov 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for IVD were set to 26018748

21 Nov 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IVD were set to Isovaleric acidemia 243500

21 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IVD were set to Isovaleric acidemia 243500

18 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IVD were set to

18 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for IVD was changed to BIALLELIC, autosomal or pseudoautosomal

18 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

IVD was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

IVD was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory