Cytopenias and congenital anaemiasGene: TAZ
Comment when marking as ready: Marked as green after internal curation
Created: 10 Mar 2017, 12:41 p.m.
Associated with phenotype in OMIM and as a confirmed G2P. At least 14 variants reported including at least 7 reports of neutropenia (relevant to this panel).
Created: 9 Mar 2017, 4:32 p.m.
Comment on phenotypes: Not all cases of Barth syndrome manifest with Neutropenia
Created: 7 Mar 2017, 2:56 p.m.
Barth syndrome 302060
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
TAZ was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green
Phenotypes for TAZ were set to Barth syndrome 302060
Mode of inheritance for TAZ was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
TAZ was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
TAZ was created by LouiseD