17 Jan 2022
Rhabdomyolysis and metabolic muscle disorders v1.71
POLG
Arina Puzriakova Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; 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 to Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
08 Aug 2019
Rhabdomyolysis and metabolic muscle disorders v1.28
POLG2
Sarah Leigh Publications for gene: POLG2 were set to 25929793
08 Aug 2019
Rhabdomyolysis and metabolic muscle disorders v1.27
POLG2
Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269)
08 Aug 2019
Rhabdomyolysis and metabolic muscle disorders v1.27
POLG2
Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
06 Nov 2017
Rhabdomyolysis and metabolic muscle disorders
POLG1
Louise Daugherty commented on POLG1
04 Jan 2017
Rhabdomyolysis and metabolic muscle disorders
POLG1
Sarah Leigh classified POLG1* as grey
04 Jan 2017
Rhabdomyolysis and metabolic muscle disorders
POLG1
Sarah Leigh commented on POLG1*
04 Jan 2017
Rhabdomyolysis and metabolic muscle disorders
POLG1
Ros Quinlivan reviewed POLG1*
05 Dec 2016
Rhabdomyolysis and metabolic muscle disorders
POLG2
Sarah Leigh marked POLG2 as ready
01 Dec 2016
Rhabdomyolysis and metabolic muscle disorders
POLG2
Sarah Leigh added POLG2 to panel
01 Dec 2016
Rhabdomyolysis and metabolic muscle disorders
POLG2
Sarah Leigh reviewed POLG2
01 Dec 2016
Rhabdomyolysis and metabolic muscle disorders
POLG
Sarah Leigh added POLG to panel
01 Dec 2016
Rhabdomyolysis and metabolic muscle disorders
POLG
Sarah Leigh reviewed POLG