Hyperammonaemia
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
3 reviews
Arina Puzriakova (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZINCreated: 10 May 2022, 3:27 p.m. | Last Modified: 10 May 2022, 3:27 p.m.
Panel Version: 1.13
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance: A variant in this gene can cause the disease in males as they have one X-chromosome allele, whereas a variant on both X-chromosome alleles is required to cause the disease in femaleCreated: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Barth syndrome
Details
- Sources
-
- Emory Genetics Laboratory
- Tags
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Cytopenia - NOT Fanconi anaemia
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Left Ventricular Noncompaction Cardiomyopathy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Dilated Cardiomyopathy and conduction defects
- Likely inborn error of metabolism
- Hyperammonaemia
- Barth syndrome
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
History Filter Activity
10 May 2022, Gel status: 1
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: TAZ.
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TAZ was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory