Hereditary neuropathy
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZINCreated: 10 May 2022, 3:28 p.m. | Last Modified: 10 May 2022, 3:28 p.m.
Panel Version: 1.453
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Natalie Forrester (SWGLH - Bristol Genetics)
Unable to find any evidence of clear neuropathy associationCreated: 29 Apr 2019, 12:30 p.m.
Phenotypes
Cardiomyopathy
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
neuropathy is very rareCreated: 9 Dec 2015, 4:48 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Not a CMT geneCreated: 9 Dec 2015, 8:50 a.m.
Mary Reilly (Institute of Neurology)
Not a CMT geneCreated: 8 Dec 2015, 3:06 p.m.
Details
- Sources
-
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- Phenotypes
-
- Cardiomyopathy
- Tags
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy or pain disorder
- Cytopenias and congenital anaemias
- Barth syndrome
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hyperammonaemia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Fetal hydrops
- Fetal anomalies
- Mitochondrial disorders
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: TAZ.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Cardiomyopathy for gene: TAZ
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to TAZ.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to TAZ.
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory