POLG2

DNA polymerase gamma 2, accessory subunit
OMIM: 604983, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green POLG2 in Mendeliome Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Amber POLG2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Green POLG2 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Green POLG2 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber POLG2 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Green POLG2 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131
Red POLG2 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131
Green POLG2 in Congenital ophthalmoplegia Level 2: Ophthalmological disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type) - 618528 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 - 610131
Amber POLG2 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131
Red POLG2 in Fetal anomalies Version 2.0	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415 Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131