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  3. DST
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Hereditary Neuropathy_CMT - isolated

Gene: DST

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three independent families; functional data including mouse model. Gene also causes a type of EB; different conditions thought to relate to effects on different isoforms; evidence for tissue-specific promoters.
Sources: Literature
Created: 15 Dec 2019, 7:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VI, MIM#614653

Publications

Created: 15 Dec 2019, 7:13 p.m.

Panel version: Imported from Peripheral Neuropathy_CMT panel version 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Literature
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653
  • MONDO:0013839
  • HSAN/SFN
OMIM
113810
Clinvar variants
Variants in DST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2021, 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).

3 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DST were changed from Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; MONDO:0013839; HSAN/SFN

3 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DST were changed from Hereditary Sensory and Autonomic Neuropathy, Type VI; HSAN/SFN to Neuropathy, hereditary sensory and autonomic, type VI, MIM# 614653; HSAN/SFN

3 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DST were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DST was added gene: DST was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DST were set to Hereditary Sensory and Autonomic Neuropathy, Type VI; HSAN/SFN