Familial dysautonomia
Gene: DST
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Only one family. Expert review rated redCreated: 8 Dec 2016, 11:07 a.m.
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Green List (High Evidence).
Publications for DST were set to 22522446; 26043942; 25195653; 24381311
Phenotypes for DST were set to Neuropathy, hereditary sensory and autonomic, type VI 614653
DST was created by sleigh
DST was added to Familial dysautonomiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN