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Autonomic neuropathy

Gene: DST

Green List (high evidence)
DST (dystonin)
EnsemblGeneIds (GRCh38): ENSG00000151914
EnsemblGeneIds (GRCh37): ENSG00000151914
OMIM: 113810, Gene2Phenotype
DST is in 5 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Since first family published in 2012, there have been two other families published. This is a green gene in the hereditary neuropathy panel.
Created: 23 Apr 2024, 6:20 a.m. | Last Modified: 23 Apr 2024, 6:20 a.m.
Panel Version: 0.48
Comment when marking as ready: Single family reported 2012
Created: 11 Nov 2020, 5:16 a.m. | Last Modified: 11 Nov 2020, 5:16 a.m.
Panel Version: 0.11
single consanguineous family reported
Sources: Literature
Created: 11 Nov 2020, 5:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6

Publications

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

Created: 11 Nov 2020, 5:15 a.m.

Panel version: 0.48

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
  • HSAN6
OMIM
113810
Clinvar variants
Variants in DST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DST were set to

24 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: dst has been classified as Red List (Low Evidence).

11 Nov 2020, Gel status: 1

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: dst has been classified as Red List (Low Evidence).

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: DST was added gene: DST was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DST were set to OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI; HSAN6 Review for gene: DST was set to AMBER gene: DST was marked as current diagnostic