Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Adult onset neurodegenerative disorder v4.37 GRN Sarah Leigh Tag Q4_22_MOI was removed from gene: GRN.
Adult onset neurodegenerative disorder v4.37 GRN Sarah Leigh reviewed gene: GRN: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v4.36 GRN Sarah Leigh Mode of inheritance for gene GRN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.295 GRN Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update.
Adult onset neurodegenerative disorder v2.295 GRN Arina Puzriakova Mode of inheritance for gene: GRN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v2.294 GRN Arina Puzriakova Phenotypes for gene: GRN were changed from Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485 to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485; Ceroid lipofuscinosis, neuronal, 11, OMIM:614706
Adult onset neurodegenerative disorder v2.293 GRN Arina Puzriakova Publications for gene: GRN were set to 20301545; 17923627
Adult onset neurodegenerative disorder v2.292 GRN Arina Puzriakova Tag Q4_22_MOI tag was added to gene: GRN.
Adult onset neurodegenerative disorder v2.292 GRN Arina Puzriakova reviewed gene: GRN: Rating: ; Mode of pathogenicity: None; Publications: 27021778, 28000352, 31855245; Phenotypes: Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485, Aphasia, primary progressive, OMIM:607485, Ceroid lipofuscinosis, neuronal, 11, OMIM:614706; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.90 GRN Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
clinical presentation suggestive of cortico-basal/PSP syndrome;Complex parkinsonism;Frontotemporal Dementia;frontotemporal lobar degeneration with TDP43 inclusions;Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset neurodegenerative disorder v2.90 GRN Ivone Leong Phenotypes for gene: GRN were changed from clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; Frontotemporal Dementia; frontotemporal lobar degeneration with TDP43 inclusions; Clinical syndrome FTLD (Frontotemporal lobar degeneration) to Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485; Aphasia, primary progressive, OMIM:607485
Adult onset neurodegenerative disorder v1.101 GRN Louise Daugherty commented on gene: GRN: 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 GRN Louise Daugherty Source Wessex and West Midlands GLH was added to GRN.
Adult onset neurodegenerative disorder v1.99 GRN Tracy Lester reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: clinical presentation suggestive of cortico-basal/PSP syndrome, Complex parkinsonism, Frontotemporal Dementia, frontotemporal lobar degeneration with TDP43 inclusions, Clinical syndrome FTLD (Frontotemporal lobar degeneration); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.74 GRN Louise Daugherty commented on gene: GRN: 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 GRN Nick Beauchamp reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 GRN Louise Daugherty Source Yorkshire and North East GLH was added to GRN.
Adult onset neurodegenerative disorder v1.11 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRN James Polke reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.9 GRN Louise Daugherty Source NHS GMS was added to GRN.
Adult onset neurodegenerative disorder v1.8 GRN Louise Daugherty Source London North GLH was added to GRN.
Adult onset neurodegenerative disorder v0.2 GRN Rebecca Foulger Added phenotypes clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions for gene: GRN
Adult onset neurodegenerative disorder v0.2 GRN Rebecca Foulger gene: GRN was added
gene: GRN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRN were set to 20301545; 17923627
Phenotypes for gene: GRN were set to Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration)