1. Panels
  2. COVID-19 research
  3. TAZ
Genes in panel
Prev Next
STRs in panel
Prev Next

COVID-19 research

Gene: TAZ

Green List (high evidence)
TAZ (tafazzin)
EnsemblGeneIds (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 TAFAZZIN
Created: 10 May 2022, 3:27 p.m. | Last Modified: 10 May 2022, 3:27 p.m.
Panel Version: 1.126
Created: 10 May 2022, 3:27 p.m.
Last Modified: 10 May 2022, 3:27 p.m.
Panel version: 1.126

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Created: 17 Sep 2019, 3:18 p.m.
Last Modified: 17 Sep 2019, 3:18 p.m.
Panel version: Imported from Primary immunodeficiency panel version 1.94

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Neutropenias
Created: 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 syndrome
Created: 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: ENST00000299328
Created: 17 Apr 2018, 12:12 p.m.
Created: 17 Apr 2018, 12:12 p.m.

Panel version: Imported from Primary immunodeficiency panel version 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with disease in OMIM and G2P. 4/4 sources
Created: 25 May 2016, 8 a.m.
Created: 25 May 2016, 8 a.m.

Panel version: Imported from Primary immunodeficiency panel version Imported from Congenital neutropaenia panel version 0.35

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • 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
  • 3-methylglutaconic aciduria, type II, 302060
  • Congenital defects of phagocyte number or function
  • Cardiomyopathy, myopathy, growth retardation, neutropenia
  • Cardioskeletal myopathy with neutropenia and abnormal mitochondria
Tags
new-gene-name
OMIM
300394
Clinvar variants
Variants in TAZ
Penetrance
None
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag new-gene-name tag was added to gene: TAZ.

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TAZ was added gene: TAZ was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,Congenital neutropaenia v1.22,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome; 3-methylglutaconic aciduria, type II, 302060; Congenital defects of phagocyte number or function; Cardiomyopathy, myopathy, growth retardation, neutropenia; Cardioskeletal myopathy with neutropenia and abnormal mitochondria