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Hereditary ataxia with onset in adulthood v1.196 POLG2 Sarah Leigh Publications for gene: POLG2 were set to
Hereditary ataxia with onset in adulthood v1.195 POLG2 Sarah Leigh Added comment: Comment 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).
Hereditary ataxia with onset in adulthood v1.195 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.188 POLG2 Louise Daugherty commented on gene: POLG2: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.187 POLG2 Louise Daugherty Source Expert Review Red was added to POLG2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.29 POLG2 Louise Daugherty Mode of inheritance for gene: POLG2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.28 POLG2 Louise Daugherty Classified gene: POLG2 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.28 POLG2 Louise Daugherty Gene: polg2 has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.14 POLG2 Louise Daugherty commented on gene: POLG2: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.14 POLG Louise Daugherty commented on gene: POLG: Review and rating submitted byJames Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Hereditary ataxia with onset in adulthood v1.13 POLG2 Louise Daugherty Source London North GMS was added to POLG2.
Hereditary ataxia with onset in adulthood v1.13 POLG Louise Daugherty Source London North GMS was added to POLG.
Hereditary ataxia with onset in adulthood v1.11 POLG2 James Polke reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 POLG James Polke reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.9 POLG2 Louise Daugherty Added phenotypes Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 for gene: POLG2
Hereditary ataxia with onset in adulthood v1.9 POLG Louise Daugherty Added phenotypes Mitochondrial recessive ataxia syndrome, 607459; autosomal recessive progressive external opthalmoplegia, 258450; autosomal dominant progressive external ophthalmoplegia, 157640; Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 for gene: POLG
Hereditary ataxia with onset in adulthood v1.8 POLG2 Louise Daugherty reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.8 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.7 POLG2 Tracy Lester reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.7 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662, Mitochondrial recessive ataxia syndrome, 607459, autosomal dominant progressive external ophthalmoplegia, 157640 and autosomal recessive progressive external opthalmoplegia, 258450; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary ataxia with onset in adulthood v1.2 POLG2 Louise Daugherty Source NHS GMS was added to POLG2.
Hereditary ataxia with onset in adulthood v1.2 POLG Louise Daugherty Source NHS GMS was added to POLG.
Hereditary ataxia with onset in adulthood v1.1 POLG2 Louise Daugherty gene: POLG2 was added
gene: POLG2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: POLG2 was set to
Hereditary ataxia with onset in adulthood v1.1 POLG Louise Daugherty Source Wessex and West Midlands GLH was added to POLG.
Hereditary ataxia with onset in adulthood v0.2 POLG Eleanor Williams gene: POLG was added
gene: POLG was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)