Dystonia - childhood onset


Green List (high evidence)

HIBCH (3-hydroxyisobutyryl-CoA hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000198130
EnsemblGeneIds (GRCh37): ENSG00000198130
OMIM: 610690, Gene2Phenotype
HIBCH is in 12 panels

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History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: HIBCH was added gene: HIBCH was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency 250620