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Hereditary neuropathy NOT PMP22 copy number

Gene: DST

Green List (high evidence)

DST (dystonin)
EnsemblGeneIds (GRCh38): ENSG00000151914
EnsemblGeneIds (GRCh37): ENSG00000151914
OMIM: 113810, Gene2Phenotype
DST is in 7 panels

6 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rated Green : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart) . New evidence/re-evaluation of evidence - promotion to Green / New evidence - upgrade to Green? New evidence promote to Green
Created: 6 Dec 2019, 2:31 p.m. | Last Modified: 6 Dec 2019, 2:31 p.m.
Panel Version: 0.36
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) 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, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 1:19 p.m. | Last Modified: 6 Dec 2019, 1:19 p.m.
Panel Version: 0.12
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.

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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-VI
Created: 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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Amber gene demoted to red due to 3 reviewers in agreement.
Created: 4 May 2016, 8:44 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

3 families, mouse model
Created: 16 May 2019, 3:07 p.m.
Homozygous truncating mutations cause epiidermolysis bullosa, homozygous truncating mutations reported in over severe infantile onset neurodegenerative condition
Created: 9 Dec 2015, 8:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Homozygous truncating mutations cause epiidermolysis bullosa, homozygous truncating mutations reported in over severe infantile onset neurodegenerative condition
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type VI
  • ?Neuropathy, hereditary sensory and autonomic, type VI
OMIM
113810
Clinvar variants
Variants in DST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dst has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DST was added gene: DST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,Illumina TruGenome Clinical Sequencing Services,London North GLH,Expert Review Red,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 30371979; 28468842 Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; ?Neuropathy, hereditary sensory and autonomic, type VI