This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: TAZ
TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
2 reviews
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Comment when marking as ready: Barth syndrome on DDG2PCreated: 11 Feb 2016, 2:32 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Dilated Cardiomyopathy, X-Linked
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- 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
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Hyperammonaemia
- COVID-19 research
- Barth syndrome
- Fetal hydrops
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
11 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
11 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 Jul 2015, Gel status: 2
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
13 Jul 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Dilated Cardiomyopathy (DCM)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
13 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Dilated Cardiomyopathy (DCM)panel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services