Hereditary neuropathy

Gene: DST

Green List (high evidence)

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.

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

• 30371979
• 28468842

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Comment on list classification: Amber gene demoted to red due to 3 reviewers in agreement.

Created: 4 May 2016, 8:44 a.m.

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

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