Genomics England

TAZ

tafazzin

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Barth syndrome R-numbers: R391 Signed-off version 1.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes
Green in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Barth syndrome, 302060, 302060 Barth syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes BARTH SYNDROME 302060
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes BARTH SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes BARTH SYNDROME, BTHS
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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Barth syndrome, 302060, Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias), Disorders of mitochondrial lipid metabolism
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Disorders of mitochondrial lipid metabolism, Barth syndrome, 302060
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	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Disorders of mitochondrial lipid metabolism, Dilated Cardiomyopathy, X-Linked, Neutropenia, muscle weakness, growth retardation, Non-compaction cardiomyopathy, Barth syndrome, 302060, Left Ventricular Noncompaction Cardiomyopathy, HCM, mixed, Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Barth syndrome, Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Barth syndrome, 302060
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 5.3	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Barth syndrome, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria, type II, 302060, Cardiomyopathy, myopathy, growth retardation, neutropenia, Congenital defects of phagocyte number or function