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| Adult onset neurodegenerative disorder v2.70 | DCTN1 | Ivone Leong Phenotypes for gene: DCTN1 were changed from Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome; Neuropathy, distal hereditary motor, type VIIB; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 to Neuropathy, distal hereditary motor, type VIIB, OMIM:607641; Perry syndrome, OMIM:168605; {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.69 | DCTN1 | Ivone Leong Publications for gene: DCTN1 were set to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.101 | DCTN1 | Louise Daugherty commented on gene: DCTN1: 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 | DCTN1 | Louise Daugherty Source Wessex and West Midlands GLH was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.99 | DCTN1 | Tracy Lester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625595, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.81 | DCTN1 | Louise Daugherty Publications for gene DCTN1 were changed from 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764 to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.74 | DCTN1 | Louise Daugherty commented on gene: DCTN1: 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 | DCTN1 | Nick Beauchamp reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20437543, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.67 | DCTN1 | Louise Daugherty Source Yorkshire and North East GLH was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.11 | DCTN1 | Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.10 | DCTN1 | James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.9 | DCTN1 | Louise Daugherty Source NHS GMS was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.8 | DCTN1 | Louise Daugherty Source London North GLH was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | DCTN1 | Rebecca Foulger Added phenotypes Perry syndrome for gene: DCTN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | DCTN1 | Rebecca Foulger Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | DCTN1 | Rebecca Foulger Added phenotypes Perry syndrome for gene: DCTN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v0.2 | DCTN1 |
Rebecca Foulger gene: DCTN1 was added gene: DCTN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764 Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400 |
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