| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hereditary neuropathy v1.353 | DCTN1 |
Louise Daugherty Source Expert Review Green was added to DCTN1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.352 | DCTN1 | Louise Daugherty edited their review of gene: DCTN1: Added comment: The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | DCTN1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.80 | DCTN1 | Louise Daugherty commented on gene: DCTN1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.79 | DCTN1 | Alexander Rossor reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.79 | DCTN1 | Alexander Rossor Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.79 | DCTN1 | Alexander Rossor Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.79 | DCTN1 | Louise Daugherty Phenotypes for gene: DCTN1 were changed from {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 to {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome, 168605 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | DCTN1 | Louise Daugherty commented on gene: DCTN1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | DCTN1 |
Louise Daugherty Added phenotypes {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605 for gene: DCTN1 Publications for gene DCTN1 were changed from PMID: 27025386 (2016) - Study includes the report of a 12 year old boy with distal hereditary motor neuropathy 7B (dHMN7B) in whom the DCTN1 c.1019A > G p.E340G variant was as likely pathogenic. to 28251916; 24627108; 27025386 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.58 | DCTN1 | Natalie Forrester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27025386, 28251916, 24627108; Phenotypes: Neuropathy, distal hereditary motor, type VIIB 607641, Perry syndrome 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | DCTN1 | Louise Daugherty Source South West GLH was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | DCTN1 | Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | DCTN1 | James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | DCTN1 | Louise Daugherty Source NHS GMS was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | DCTN1 | Louise Daugherty Source London North GLH was added to DCTN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||