Hyperammonaemia

Gene: POLG

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least six variants reported in numerous cases of Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700, either as homozygotes or compound heterozygotes..

Created: 21 Nov 2016, 4:44 p.m.

Comment on phenotypes: Phenotype OMIM 203700 relevant to this panel according to Peter Clayton (UCL Institute of Child Health). Also associated with Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459, Progressive external ophthalmoplegia, autosomal dominant 1 157640, Progressive external ophthalmoplegia, autosomal recessive 1 258450

Created: 21 Nov 2016, 4:42 p.m.

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.

Green List (high evidence)

Hyperammonaemia with liver failure

Created: 5 Nov 2015, 4:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DNA polymerase gamma (POLG) deficiency, hepatocerebral mtDNA depletion