Left Ventricular Noncompaction Cardiomyopathy
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZINCreated: 10 May 2022, 3:23 p.m. | Last Modified: 10 May 2022, 3:23 p.m.
Panel Version: 1.4
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Barth syndrome on DDG2PCreated: 11 Feb 2016, 1:27 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
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Left Ventricular Noncompaction Cardiomyopathy
- 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
- 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
- Fetal anomalies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: TAZ.
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 Left ventricular non-compaction cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Expert list