Gastrointestinal neuromuscular disorders

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 21 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: > 3 cases reported in OMIM for different variants under Mitochondrial DNA depletion syndrome 4B (MNGIE type). Confirmed DD gene for MITOCHONDRIAL DNA DEPLETION SYNDROME 4A. Green gene on the Mitochondrial panel Version 1.14.
19 Oct 2016, 9:20 a.m.

Neil shah (GOSH)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662

31 Aug 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

POLG was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN