TAZ

tafazzin
OMIM: 300394, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green TAZ in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Left Ventricular Noncompaction Cardiomyopathy
Tags
  • new-gene-name
Red TAZ in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Tags
  • new-gene-name
No list TAZ in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.63

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Barth syndrome, MIM#302060
Tags
  • new-gene-name
Green TAZ in COVID-19 research


Level 2: Viral research
Version 1.141

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Barth syndrome
  • 3-methylglutaconic aciduria, type II, 302060
  • Congenital defects of phagocyte number or function
  • Cardiomyopathy, myopathy, growth retardation, neutropenia
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Tags
  • new-gene-name
Green TAZ in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • South West GLH
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Dilated Cardiomyopathy, X-Linked
Tags
  • new-gene-name
Green TAZ in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.192
Latest signed off version: v4.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
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
Tags
  • new-gene-name
Green TAZ in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.116

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Barth syndrome 302060
Tags
  • new-gene-name
Green TAZ in Cytopenia - NOT Fanconi anaemia


Version 3.23
Latest signed off version: v3.0 (22 Mar 2023)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Barth syndrome, 302060
  • 302060 Barth syndrome
Tags
  • new-gene-name
Green TAZ in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.613

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
  • Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial lipid metabolism
  • Barth syndrome, 302060
Tags
  • new-gene-name
Green TAZ in Likely inborn error of metabolism - targeted testing not possible


Version 4.131
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    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
    Tags
    • new-gene-name
    Green TAZ in Possible mitochondrial disorder - nuclear genes


    Version 3.89
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Barth syndrome, 302060
    Tags
    • new-gene-name
    Green TAZ in Fetal anomalies


    Version 3.137
    Latest signed off version: v3.0 (22 Mar 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARTH SYNDROME
    Tags
    • new-gene-name
    Green TAZ in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARTH SYNDROME 302060
    Tags
    • new-gene-name
    Red TAZ in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.476

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Tags
    • new-gene-name
    Green TAZ in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.480
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    Phenotypes
    • BARTH SYNDROME
    • BTHS
    Tags
    • new-gene-name
    Green TAZ in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.159
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial lipid metabolism
    • Barth syndrome, 302060
    Tags
    • new-gene-name
    Green TAZ in Paediatric or syndromic cardiomyopathy


    Version 3.43
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • NHS GMS
    • South West GLH
    • London South GLH
    • MetBioNet
    • Expert Review Green
    • MetBioNet
    • London South GLH
    • South West GLH
    • Expert Review Green
    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)
    Tags
    • new-gene-name
    Red TAZ in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Tags
    • new-gene-name
    Red TAZ in Childhood onset dystonia, chorea or related movement disorder


    Version 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green TAZ in Severe Paediatric Disorders


    Version 1.182

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Barth syndrome, 302060
    Green TAZ in Barth syndrome


    Version 1.2
    Latest signed off version: v1.0 (14 Sep 2023)

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • NHS GMS
    Tags
    • new-gene-name