Genomics England

HIBCH

3-hydroxyisobutyryl-CoA hydrolase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HIBCH DEFICIENCY 250620
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency 250620
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HIBCH DEFICIENCY
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HIBCH DEFICIENCY
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	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: - Leukodystrophy, childhood onset Signed-off version 10.18	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 5.17	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY, 250620
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY OMIM:250620, 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603