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  3. TAZ
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Fetal hydrops

Gene: TAZ

No list
TAZ (tafazzin)
EnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels

2 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: 1.55
Created: 10 May 2022, 3:27 p.m.
Last Modified: 10 May 2022, 3:27 p.m.
Panel version: 1.55

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Cardiomyopathy is a recognised feature and hydrops has been described in case reports.
Sources: Expert list
Created: 30 Dec 2019, 7:35 a.m.

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

Phenotypes
Barth syndrome, MIM#302060

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Dec 2019, 7:35 a.m.

Panel version: 1.16

History Filter Activity

10 May 2022, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

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

30 Dec 2019, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TAZ was added gene: TAZ was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 29476731; 31598953 Phenotypes for gene: TAZ were set to Barth syndrome, MIM#302060 Review for gene: TAZ was set to GREEN gene: TAZ was marked as current diagnostic