TAZ

PanelMode of inheritanceDetails
10 panels
R-numbers: R391
Signed-off version 1.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
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 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
BARTH SYNDROME 302060
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
BARTH SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
BARTH SYNDROME, BTHS
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 5.0
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Disorders of mitochondrial lipid metabolism, Barth syndrome, 302060
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 4.0
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)
R-numbers: R63
Signed-off version 3.105
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Barth syndrome, 302060
R-numbers: R15
Signed-off version 5.0
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