Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: POLGComment on list classification: This gene will be demoted to Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:32 p.m. | Last Modified: 28 Nov 2019, 5:32 p.m.
Panel Version: 1.183
Progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Comment on list classification: Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019Created: 14 May 2019, 11:27 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700
Publications
Gene: polg has been classified as Red List (Low Evidence).
Gene: polg has been classified as Amber List (Moderate Evidence).
Source NHS GMS was added to POLG.
Source Yorkshire and North East GLH was added to POLG.
Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 for gene: POLG Publications for gene POLG were changed from to 15122711
gene: POLG was added gene: POLG was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: POLG was set to