Hereditary neuropathy or pain disorder
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, 3:29 p.m. | Last Modified: 10 May 2022, 3:29 p.m.
Panel Version: 1.101
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
- NHS GMS
- South West GLH
- Phenotypes
-
- Cardiomyopathy
- Tags
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Left Ventricular Noncompaction Cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Hyperammonaemia
- Barth syndrome
- Fetal hydrops
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: TAZ.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TAZ was added gene: TAZ was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,NHS GMS Mode of inheritance for gene: TAZ was set to Phenotypes for gene: TAZ were set to Cardiomyopathy