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Adult onset neurodegenerative disorder v8.15 POLG Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: POLG.
Adult onset neurodegenerative disorder v8.15 POLG Achchuthan Shanmugasundram reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v8.12 POLG Achchuthan Shanmugasundram Source Expert Review Green was added to POLG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v7.10 POLG Sarah Leigh Added comment: Comment on publications: PMID: 39498811 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Adult onset neurodegenerative disorder v7.10 POLG Sarah Leigh Publications for gene: POLG were set to
Adult onset neurodegenerative disorder v7.9 POLG Sarah Leigh Classified gene: POLG as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v7.9 POLG Sarah Leigh Gene: polg has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v7.8 POLG Sarah Leigh Tag Q1_25_ promote_green tag was added to gene: POLG.
Adult onset neurodegenerative disorder v7.8 POLG Sarah Leigh edited their review of gene: POLG: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v7.8 POLG Sarah Leigh changed review comment from: In their study of a 1185 Spanish Parkinson disease patients, PMID: 39498811 report eleven individuals carrying heterozygous POLG variants. Seven POLG variants were identified in the patients, including the co-occurrence of c.752C>T, p.Thr251Ile and c.1760C>Tp.Pro587Leu (NM_002693.3), which are in cis. The phenotypic features of these patients included motor fluctuations (81.8%), dyskinesias (70%), cognitive impairment (80%), rapid eye movement sleep behavior disorder (70%) and olfactory dysfunction (71.4%). Ataxia or peripheral neuropathy were not reported for these patients (PMID: 39498811).; to: In their study of a 1185 Spanish Parkinson disease patients, PMID: 39498811 report eleven individuals carrying heterozygous POLG variants. Seven POLG variants were identified in the patients, including the co-occurrence of c.752C>T, p.Thr251Ile and c.1760C>Tp.Pro587Leu (NM_002693.3), which are in cis. The phenotypic features of these patients included motor fluctuations (81.8%), dyskinesias (70%), cognitive impairment (80%), rapid eye movement sleep behavior disorder (70%) and olfactory dysfunction (71.4%). Ataxia or peripheral neuropathy were not reported for these patients (PMID: 39498811).
Adult onset neurodegenerative disorder v7.8 POLG Sarah Leigh reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 39498811; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.106 POLG Louise Daugherty edited their review of gene: POLG: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: RED
Adult onset neurodegenerative disorder v1.105 POLG Louise Daugherty Source Expert Review Red was added to POLG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset neurodegenerative disorder v1.101 POLG Louise Daugherty commented on gene: POLG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 POLG Louise Daugherty Source Wessex and West Midlands GLH was added to POLG.
Adult onset neurodegenerative disorder v1.99 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.74 POLG Louise Daugherty commented on gene: POLG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.72 POLG Nick Beauchamp reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.67 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Adult onset neurodegenerative disorder v1.11 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLG James Polke reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 POLG Louise Daugherty Source NHS GMS was added to POLG.
Adult onset neurodegenerative disorder v1.8 POLG Louise Daugherty Source London North GLH was added to POLG.
Adult onset neurodegenerative disorder v0.2 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to Neurodegenerative disorders - adult onset. Sources: 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)