Congenital neutropaenia

Gene: TAZ

Green List (high evidence)

TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 21 panels

2 reviews

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

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.

History Filter Activity

8 Jun 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TAZ were set to Barth syndrome (CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II) 302060

26 May 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

TAZ was added to Congenital neutropaeniapanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

26 May 2016, Gel status: 4

clearsources

Sarah Leigh (Genomics England Curator)

TAZAll sources for gene: TAZ were removed

25 May 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TAZ were set to CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II; Barth syndrome, 302060

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

TAZ was added to Congenital neutropaeniapanel. Sources: Expert Review,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

25 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene TAZ were set to Barth Syndrome, neutropenia in some patients, 302060

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TAZ was added to Congenital neutropaeniapanel. Source: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TAZ was added to Congenital neutropaeniapanel. Sources: UKGTN