Hyperammonaemia
Gene: IVD
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isovaleric acidemia
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.
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.
Promoted to version 1 on 22nd November 2016
Publications for IVD were set to 26018748; 23587913; 23063737; 24019846
Publications for IVD were set to 26018748
Phenotypes for IVD were set to Isovaleric acidemia 243500
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for IVD were set to Isovaleric acidemia 243500
Phenotypes for IVD were set to
Mode of inheritance for IVD was changed to BIALLELIC, autosomal or pseudoautosomal
IVD was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
IVD was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory