Mitochondrial disorders
Gene: POLG2Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome and in an autosomal recessive epilepsy family without ophthalmoplegia (PMID 27592148; 30157269; 31286721).Created: 6 Aug 2019, 11:47 a.m. | Last Modified: 8 Aug 2019, 4:41 p.m.
Panel Version: 1.476
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: POLG2 were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4,610131; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions to Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528; Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131
Publications for gene: POLG2 were set to 27592148; 30157269; 21555342
Publications for gene: POLG2 were set to 27592148; 30157269
Publications for gene: POLG2 were set to
Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Victorian Clinical Genetics Services was added to POLG2. Panel: Mitochondrial disorders
Model of inheritance for gene POLG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POLG2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene POLG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POLG2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene POLG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POLG2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene POLG2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
POLG2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
POLG2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services