TAFAZZIN:Ensemblv115

tafazzin, phospholipid-lysophospholipid transacylase
OMIM: 300394, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green TAFAZZIN in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Barth syndrome, MIM# 302060
Red TAFAZZIN in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red Phenotypes Barth syndrome (MIM# 302060)
Green TAFAZZIN in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Barth syndrome, MIM# 302060
Green TAFAZZIN in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Barth syndrome, MIM#302060
Green TAFAZZIN in Phagocyte Defects Level 2: Immunological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Barth syndrome, MIM# 302060
Green TAFAZZIN in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Genetic Health Queensland Expert Review Green Phenotypes Barth syndrome MONDO:0010543
Green TAFAZZIN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Barth syndrome, 302060 (3)
Green TAFAZZIN in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London South GLH MetBioNet Expert Review Green NHS GMS South West 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 TAFAZZIN in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Genomics England PanelApp Expert Review Green Phenotypes Barth syndrome, MIM#302060
Green TAFAZZIN in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Barth syndrome (MIM# 302060)
Green TAFAZZIN in Aminoacidopathy Level 2: Metabolic disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Literature Expert Review Green Phenotypes 3-methylglutaconic aciduria MONDO:0017359
Green TAFAZZIN in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Mackenzie's Mission Expert Review Green Phenotypes Barth syndrome, MIM#302060