Genomics England

HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Trifunctional protein deficiency, OMIM:609015
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Trifunctional protein deficiency, OMIM:609015, Mitochondrial trifunctional protein deficiency, MONDO:0012172
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation), Trifunctional protein deficiency 609015
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), Trifunctional protein deficiency 609015, Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation), Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism, Mitochondrial Trifunctional Protein deficiency, HCM
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial trifunctional protein deficiency 2, OMIM:620300