This Panel is marked as Internal
Anaemias and red cell disorders
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
0 reviews
Details
- Sources
-
- UKGTN
- Phenotypes
-
- Barth Syndrome
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Left Ventricular Noncompaction Cardiomyopathy
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Hyperammonaemia
- Fetal hydrops
- Fetal anomalies
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Barth syndrome
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- DDG2P
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Cytopenia - NOT Fanconi anaemia
- Hereditary neuropathy or pain disorder
History Filter Activity
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Anaemias and red cell disorderspanel. Sources: UKGTN
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TAZ was created by ellenmcdonagh