Cytopenias and congenital anaemias
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, 3:28 p.m. | Last Modified: 10 May 2022, 3:28 p.m.
Panel Version: 1.106
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as green after internal curationCreated: 10 Mar 2017, 12:41 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and as a confirmed G2P. At least 14 variants reported including at least 7 reports of neutropenia (relevant to this panel).Created: 9 Mar 2017, 4:32 p.m.
Comment on phenotypes: Not all cases of Barth syndrome manifest with NeutropeniaCreated: 7 Mar 2017, 2:56 p.m.
Phenotypes
Barth syndrome 302060
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Barth syndrome 302060
- Tags
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Left Ventricular Noncompaction Cardiomyopathy
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Barth syndrome
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to gene: TAZ.
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)TAZ was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TAZ were set to Barth syndrome 302060
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TAZ was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Louise Daugherty (Genomics England Curator)TAZ was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
Created
Louise Daugherty (Genomics England Curator)TAZ was created by LouiseD