Familial dysautonomia
Gene: DSTEnsemblGeneIds (GRCh38): ENSG00000151914
EnsemblGeneIds (GRCh37): ENSG00000151914
OMIM: 113810, Gene2Phenotype
DST is in 11 panels
4 reviews
Dmitrijs Rots (Children's Clinical University Hospital)
In additional to review bellow:"One variant reported in three members of a large consanguineous Ashkenazi Jewish family. Mouse studies in vivo and in vitro studies support involvement of this gene in Neuropathy, hereditary sensory and autonomic" additional three-generation family is reported in PubMed: 30371979.Created: 23 Oct 2021, 8:54 a.m. | Last Modified: 23 Oct 2021, 8:54 a.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic
Publications
- PubMed: 30371979
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Alice Gardham (Genomics England)
Comment on list classification: Only one family. Expert review rated redCreated: 8 Dec 2016, 11:07 a.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. One variant reported in three members of a large consanguineous Ashkenazi Jewish family. Mouse studies in vivo and in vitro studies support involvement of this gene in Neuropathy, hereditary sensory and autonomic, type VI 614653Created: 26 Aug 2016, 1:26 p.m.
Comment on publications: Mouse functional studies reported in these publications, PMIDS: 26043942, 25195653, 24381311Created: 26 Aug 2016, 1:19 p.m.
Comment on phenotypes: Variants also reported in Epidermolysis bullosa simplex, autosomal recessive 2 615425Created: 26 Aug 2016, 12:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VI 614653
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neuropathy, hereditary sensory and autonomic, type VI 614653
- OMIM
- 113810
- Clinvar variants
- Variants in DST
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Familial dysautonomia
- Hereditary neuropathy
- Epidermolysis bullosa and congenital skin fragility
- Dilated and arrhythmogenic cardiomyopathy
- Congenital myopathy
- Epidermolysis bullosa
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
History Filter Activity
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for DST were set to 22522446; 26043942; 25195653; 24381311
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DST were set to Neuropathy, hereditary sensory and autonomic, type VI 614653
Created
Sarah Leigh (Genomics England Curator)DST was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)DST was added to Familial dysautonomiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN