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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) |
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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) |