Sudden cardiac death - previous panel
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
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
-
- London South GLH
- Expert Review Green
- London South GLH
- Expert Review Green
- Phenotypes
-
- Disorders of mitochondrial lipid metabolism
- Dilated Cardiomyopathy, X-Linked
- Barth syndrome, 302060
- Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias)
- Left Ventricular Noncompaction Cardiomyopathy
- Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Left Ventricular Noncompaction Cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Hyperammonaemia
- Barth syndrome
- Fetal hydrops
- Mitochondrial disorders
- Fetal anomalies
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Hereditary neuropathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TAZ was added gene: TAZ was added to Sudden cardiac death. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TAZ were set to 27604308 Phenotypes for gene: TAZ were set to Disorders of mitochondrial lipid metabolism; Dilated Cardiomyopathy, X-Linked; Barth syndrome, 302060; Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias); Left Ventricular Noncompaction Cardiomyopathy; Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only))