Hyperammonaemia

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels

3 reviews

Sarah Leigh (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Peter Clayton (UCL Institute of Child Health)

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

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

21 Nov 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for POLG was changed to BIALLELIC, autosomal or pseudoautosomal

21 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Nov 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700

18 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLG were set to

5 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

POLG was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory