Hereditary neuropathy
Gene: DCTN1
G59 mutation clearly causes dhmn with vocal cord palsy. Multiple unrelated familiesCreated: 9 May 2019, 12:16 p.m.
In Bristol seen 2 previously reported pathogenic variants (segregating in several family members) and one likely pathogenic variant (all had motor neuropathy). Should be included to pick up patients perhaps with ALS/MND who are presenting with motor neuropathy signs. PMID:27025386 (2016) - Study includes the report of a 12 year old boy with pure distal hereditary motor neuropathy with upper and lower limb weakness. PMID: 28251916 - de novo variant in patient with pes cavus, ataxia and dystonia. PMID: 24627108 - patient with HMSN2 (apparently segregating but cannot see pedigree)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, distal hereditary motor, type VIIB 607641; Perry syndrome 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Always a very difficult one for us to interpret when we find variantsCreated: 29 Apr 2019, 9:20 a.m.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Await further families before including in diagnostic panelCreated: 8 Jul 2016, 3:41 a.m.
This gene is in the Charcot Marie Tooth Disease section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of dHMN.Created: 10 Jun 2016, 1:23 p.m.
Single family describedCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to DCTN1. Rating Changed from Red List (low evidence) to Green List (high evidence)
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
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
Source South West GLH was added to DCTN1.
Source NHS GMS was added to DCTN1.
Source London North GLH was added to DCTN1.
This gene has been classified as Red List (Low Evidence).
Publications for DCTN1 were set to 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.
Model of inheritance for gene DCTN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene DCTN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene DCTN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene DCTN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DCTN1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene DCTN1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DCTN1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
DCTN1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory