Congenital neutropaenia
Gene: TAZEnsemblGeneIds (GRCh38): ENSG00000102125
EnsemblGeneIds (GRCh37): ENSG00000102125
OMIM: 300394, Gene2Phenotype
TAZ is in 20 panels
2 reviews
Sophie Hambleton (Newcastle University)
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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with disease in OMIM and G2P. 4/4 sourcesCreated: 25 May 2016, 8 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Barth syndrome (CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA
- 3-METHYLGLUTACONIC ACIDURIA, TYPE II) 302060
- OMIM
- 300394
- Clinvar variants
- Variants in TAZ
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Left Ventricular Noncompaction Cardiomyopathy
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Barth syndrome
- Fetal hydrops
- Hereditary neuropathy or pain disorder
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorders
- Likely inborn error of metabolism
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Hereditary neuropathy
- Fetal anomalies
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TAZ were set to Barth syndrome (CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II) 302060
Upload gene information
Sarah Leigh (Genomics England Curator)TAZ was added to Congenital neutropaeniapanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
clearsources
Sarah Leigh (Genomics England Curator)TAZAll sources for gene: TAZ were removed
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TAZ were set to CARDIOSKELETAL MYOPATHY WITH NEUTROPENIA AND ABNORMAL MITOCHONDRIA; 3-METHYLGLUTACONIC ACIDURIA, TYPE II; Barth syndrome, 302060
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)TAZ was added to Congenital neutropaeniapanel. Sources: Expert Review,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene TAZ were set to Barth Syndrome, neutropenia in some patients, 302060
Added New Source
Ellen McDonagh (Genomics England Curator)TAZ was added to Congenital neutropaeniapanel. Source: UKGTN
Added New Source
GEL ()TAZ was added to Congenital neutropaeniapanel. Sources: UKGTN