Congenital neutropaenia
Gene: TAZ
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
Comment when marking as ready: Associated with disease in OMIM and G2P. 4/4 sourcesCreated: 25 May 2016, 8 a.m.
Phenotypes for TAZ were set to Barth syndrome (CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II) 302060
TAZ was added to Congenital neutropaeniapanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TAZAll sources for gene: TAZ were removed
Phenotypes for TAZ were set to CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II; Barth syndrome, 302060
This gene has been classified as Green List (High Evidence).
TAZ was added to Congenital neutropaeniapanel. Sources: Expert Review,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene TAZ were set to Barth Syndrome, neutropenia in some patients, 302060
TAZ was added to Congenital neutropaeniapanel. Source: UKGTN
TAZ was added to Congenital neutropaeniapanel. Sources: UKGTN