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Cytopenias and congenital anaemias

Gene: TAZ

Green List (high evidence)

TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as green after internal curation
Created: 10 Mar 2017, 12:41 p.m.

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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 Neutropenia
Created: 7 Mar 2017, 2:56 p.m.

Phenotypes
Barth syndrome 302060

History Filter Activity

11 Mar 2017, Gel status: 4

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.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

9 Mar 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TAZ was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green

7 Mar 2017, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TAZ were set to Barth syndrome 302060

7 Mar 2017, Gel status: 1

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

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TAZ was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TAZ was created by LouiseD