Hereditary neuropathy
Gene: DST
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
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.
PMID:30371979 (Lys4330) in trans with the p.(Ala203Glu) in patient with adult form of HSAN type VI. Functional studies showed defects in actin cytoskeleton organization and consequent delayed cell adhesion, spreading and migration, while recombinant p.Ala203Glu dystonin loses the ability to bind actin. PMID:28468842 compound het variants in 3 affected sibs with HSAN-VICreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VI, 614653; others; Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Amber gene demoted to red due to 3 reviewers in agreement.Created: 4 May 2016, 8:44 a.m.
3 families, mouse modelCreated: 16 May 2019, 3:07 p.m.
Homozygous truncating mutations cause epiidermolysis bullosa, homozygous truncating mutations reported in over severe infantile onset neurodegenerative conditionCreated: 9 Dec 2015, 8:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Homozygous truncating mutations cause epiidermolysis bullosa, homozygous truncating mutations reported in over severe infantile onset neurodegenerative conditionCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to DST. Rating Changed from Red List (low evidence) to Green List (high evidence)
Source London North GLH was added to DST.
Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
Added phenotypes Hereditary Sensory and Autonomic Neuropathy, Type VI; others; ?Neuropathy, hereditary sensory and autonomic, type VI; Neuropathy, hereditary sensory and autonomic, type VI, 614653 for gene: DST Publications for gene DST were changed from to 30371979; 28468842
Source NHS GMS was added to DST.
Source South West GLH was added to DST.
This gene has been classified as Red List (Low Evidence).
Phenotypes for DST were set to Neuropathy, hereditary sensory and autonomic, type VI, 614653; others; Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene DST was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene DST was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene DST was changed to BIALLELIC, autosomal or pseudoautosomal
DST was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
DST was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services