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This Panel is marked as Internal

Newborns main panel
Gene: TAZ

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

1 review

Mafalda Gomes (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for TAZ is TAFAZZIN
Created: 25 Oct 2023, 9:01 a.m. | Last Modified: 25 Oct 2023, 9:01 a.m.

Panel Version: 0.250

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

TAFAZZIN curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

MOI reviewed by clinical team.
Created: 10 Mar 2023, 11:21 a.m. | Last Modified: 10 Mar 2023, 11:21 a.m.

Panel Version: 0.42

Phenotypes
Barth Syndrome

Created: 10 Mar 2023, 11:21 a.m.
Last Modified: 10 Mar 2023, 11:21 a.m.
Panel version: 0.250

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

Barth Syndrome

Tags

new-gene-name

OMIM

Clinvar variants

Variants in TAZ

Penetrance

None

Panels with this gene

History Filter Activity

25 Oct 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

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

25 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name was removed from gene: TAZ. Tag TAFAZZIN was removed from gene: TAZ.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Barth Syndrome for gene: TAZ

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Barth Syndrome for gene: TAZ

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Barth Syndrome for gene: TAZ

5 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Barth Syndrome for gene: TAZ

27 Mar 2023, Gel status: 3

Added Tag, Added Tag

Mafalda Gomes (Genomics England Curator)

Tag different_gene_name tag was added to gene: TAZ. Tag TAFAZZIN tag was added to gene: TAZ.

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Barth Syndrome for gene: TAZ

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: TAZ was added gene: TAZ was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females