Dilated Cardiomyopathy and conduction defects
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZINCreated: 10 May 2022, 3:27 p.m. | Last Modified: 10 May 2022, 3:27 p.m.
Panel Version: 1.77
Rebecca Whittington (South West GLH)
Barth syndrome OMIM#302060Created: 25 Mar 2019, 4:30 p.m.
Paediatric onset disease. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.Created: 25 Mar 2019, 4:27 p.m.
Paediatric onset only - paediatric panel. To date only one TAZ variant detected through panel testing. All other positive from targeted TAZ gene testing.Created: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Variants in this GENE are reported as part of current diagnostic practice
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Barth syndrome on DDG2PCreated: 14 Feb 2016, 4:22 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- 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
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Dilated Cardiomyopathy and conduction defects
- Hyperammonaemia
- COVID-19 research
- Barth syndrome
- Fetal hydrops
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: TAZ.
Added New Source, Set mode of inheritance, Status Update
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to TAZ. Mode of inheritance for gene TAZ was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TAZ was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services