Genomics England

HIBCH

3-hydroxyisobutyryl-CoA hydrolase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HIBCH DEFICIENCY 250620
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HIBCH DEFICIENCY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HIBCH DEFICIENCY
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency, Methacrylic aciduria (Organic acidurias)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620, HIBCH deficiency
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620