Fetal hydrops

Gene: TAZ

No list

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

1 review

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

History Filter Activity

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