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| Adult onset neurodegenerative disorder v2.93 | HNRNPA1 | Ivone Leong Phenotypes for gene: HNRNPA1 were changed from ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.92 | HNRNPA1 | Ivone Leong Publications for gene: HNRNPA1 were set to 23455423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | HNRNPA1 | Louise Daugherty commented on gene: HNRNPA1: 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 | HNRNPA1 | Louise Daugherty Source Wessex and West Midlands GLH was added to HNRNPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | HNRNPA1 | Tracy Lester reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23455423, 29033165, 27694260 ; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3 615424, ALS type 20 615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | HNRNPA1 | Louise Daugherty Publications for gene HNRNPA1 were changed from to 23455423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | HNRNPA1 | Louise Daugherty commented on gene: HNRNPA1: 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 | HNRNPA1 | Nick Beauchamp reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23455423; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | HNRNPA1 | Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | HNRNPA1 | Louise Daugherty reviewed gene: HNRNPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | HNRNPA1 | James Polke reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | HNRNPA1 | Louise Daugherty Source NHS GMS was added to HNRNPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | HNRNPA1 | Louise Daugherty Source London North GLH was added to HNRNPA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | HNRNPA1 | Rebecca Foulger Added phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal for gene: HNRNPA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | HNRNPA1 |
Rebecca Foulger gene: HNRNPA1 was added gene: HNRNPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal |
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