Adult onset neurodegenerative disorder
Gene: DCTN1
Puls et al. (2003) identified a family with a slowly progressive, autosomal dominant form of motor neuron disease without sensory symptoms. Onset of the disorder was in early adulthood with breathing difficulty due to vocal fold paralysis, progressive facial weakness, and weakness and muscle atrophy in the hands. Weakness and muscle atrophy in the distal lower extremities developed later. Two unrelated cases in OMIM. Additional cases reported by Konno et al 2017 and Caroppo et al 2014 with progressive supranuclear palsy-like phenotpe / motor-neuron disease. GreenCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications
Onset in fourth to fifth decade; Rapid progressionCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
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.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Variants in this GENE are reported as part of current diagnostic practice
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
Publications for gene: DCTN1 were set to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952
Source Wessex and West Midlands GLH was added to DCTN1.
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
Source Yorkshire and North East GLH was added to DCTN1.
Source NHS GMS was added to DCTN1.
Source London North GLH was added to DCTN1.
Louise Daugherty: Comment on phenotypes: amended
Added phenotypes Perry syndrome for gene: DCTN1
Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1
Added phenotypes Perry syndrome for gene: DCTN1
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