TAZ

tafazzin
OMIM: 300394, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green TAZ in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060
Red TAZ in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Barth syndrome (MIM# 302060)
Green TAZ in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060
Green TAZ in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Barth syndrome, MIM#302060
Green TAZ in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060
Green TAZ in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green TAZ in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Barth syndrome, MIM# 302060
Green TAZ in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes Barth syndrome MONDO:0010543
Green TAZ in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Barth syndrome MIM#302060
Green TAZ in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Barth syndrome, 302060 (3)
Green TAZ in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources South West GLH NHS GMS Expert Review Green MetBioNet London South GLH Phenotypes Barth syndrome, 302060 Dilated Cardiomyopathy, X-Linked Left Ventricular Noncompaction Cardiomyopathy Neutropenia, muscle weakness, growth retardation Non-compaction cardiomyopathy HCM, mixed Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial lipid metabolism Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) Barth syndrome
Green TAZ in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Barth syndrome
Green TAZ in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Barth syndrome, MIM#302060
Green TAZ in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Barth syndrome, 302060 (3)
Green TAZ in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria MONDO:0017359
Red TAZ in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene BeginNGS Phenotypes Barth syndrome, MIM#302060
Green TAZ in Prepair 500+ Level 2: Screening Version 1.1	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Barth syndrome, 302060 (3)