Primary immunodeficiency or monogenic inflammatory bowel disease
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: 2.548
Kimberly Gilmour (Great Ormond Street Hopsital)
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Tracy Briggs (Manchester Genomic Medicine Centre)
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Louise Daugherty (Genomics England Curator)
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TAZ .PanelApp HGNC gene symbol check: TAZ . IUIS Disease: Barth Syndrome, (3-Methylglutaconic aciduria type II) . IUIS Inheritance: XL .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N+L+Melanocyte. IUIS Associated features: Cardiomyopathy, myopathy, growth retardation, neutropenia. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Congenital NeutropeniasCreated: 2 Jul 2018, 10:35 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TAZ, PanelApp HGNC gene symbol check: TAZ, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Phagocytic disorders / Barth syndrome / Barth syndromeCreated: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TAZ, GRID_Gene_Symbol: TAZ, GRID_Transcript_ENS_Community submitted: ENST00000299328, GRID_Transcript_RefSeq: NM_000116.3, GRID_Transcript_ENS_used_on_Production: ENST00000299328Created: 17 Apr 2018, 12:12 p.m.
Sophie Hambleton (Newcastle University)
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with disease in OMIM and G2P. 4/4 sourcesCreated: 25 May 2016, 8 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
- Congenital neutropaenia v1.22
- Phenotypes
-
- Barth syndrome
- Cardioskeletal myopathy with neutropenia and abnormal mitochondria
- 3-methylglutaconic aciduria, type II, 302060
- Cardiomyopathy, myopathy, growth retardation, neutropenia
- Congenital defects of phagocyte number or function
- Tags
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial disorders
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Hyperammonaemia
- COVID-19 research
- Barth syndrome
- Fetal hydrops
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag new-gene-name tag was added to 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 North West GLH was added to TAZ.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to TAZ.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene TAZ were set to Barth syndrome, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria, type II, 302060, Cardiomyopathy, myopathy, growth retardation, neutropenia, Congenital defects of phagocyte number or function
Added New Source
Louise Daugherty (Genomics England Curator)IUIS Classification February 2018 was added to TAZ. Panel: Primary immunodeficiency disorders
Added New Source
Louise Daugherty (Genomics England Curator)Victorian Clinical Genetics Services was added to TAZ. Panel: Primary immunodeficiency disorders
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: taz has been classified as Green List (High Evidence).
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)ESID Registry 20171117 was added to TAZ. Panel: Primary immunodeficiency disorders Phenotypes for gene TAZ were set to Barth syndrome, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria, type II, 302060
Set penetrance
Louise Daugherty (Genomics England Curator)Phenotypes for gene TAZ were set to Barth syndrome, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria, type II, 302060
Added New Source, Set penetrance
Louise Daugherty (Genomics England Curator)GRID V2.0 was added to TAZ. Panel: Primary immunodeficiency disorders Phenotypes for gene TAZ were set to Barth syndrome, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, 3-methylglutaconic aciduria, type II, 302060
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TAZ were set to Barth syndrome; Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3-methylglutaconic aciduria, type II, 302060
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TAZ were set to Barth syndrome; • Cardioskeletal myopathy with neutropenia and abnormal mitochondria; 3-methylglutaconic aciduria, type II, 302060
Added New Source
Louise Daugherty (Genomics England Curator)TAZ was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Congenital neutropaenia v1.22
Created
Louise Daugherty (Genomics England Curator)TAZ was created by Louise Daugherty