Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.
Mode of inheritance: A variant in this gene can cause the disease in males as they have one X-chromosome allele, whereas a variant on both X-chromosome alleles is required to cause the disease in female
Created: 5 Nov 2015, 4:51 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Promoted to version 1 on 22nd November 2016
TAZ was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory