Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Adult onset neurodegenerative disorder v2.111 PARK7 Ivone Leong Phenotypes for gene: PARK7 were changed from Parkinson disease 7 autosomal recessive early-onset; 606324; Parkinson disease 7, autosomal recessive early-onset to Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
Adult onset neurodegenerative disorder v1.101 PARK7 Louise Daugherty commented on gene: PARK7: 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 PARK7 Louise Daugherty Source Wessex and West Midlands GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.99 PARK7 Tracy Lester reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.81 PARK7 Louise Daugherty Publications for gene PARK7 were changed from to 11462174; 12446870
Adult onset neurodegenerative disorder v1.74 PARK7 Louise Daugherty commented on gene: PARK7: 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 PARK7 Nick Beauchamp reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 11462174, 12446870; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 PARK7 Louise Daugherty Source Yorkshire and North East GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.11 PARK7 Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PARK7 James Polke reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.9 PARK7 Louise Daugherty Source NHS GMS was added to PARK7.
Adult onset neurodegenerative disorder v1.8 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Adult onset neurodegenerative disorder v0.2 PARK7 Rebecca Foulger Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7
Adult onset neurodegenerative disorder v0.2 PARK7 Rebecca Foulger gene: PARK7 was added
gene: PARK7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to Parkinson disease 7 autosomal recessive early-onset; 606324