Gastrointestinal neuromuscular disorders
Gene: POLG
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.Created: 19 Oct 2016, 9:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
POLG was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
POLG was created by sleigh