Hereditary Neuropathy_CMT - isolated
Gene: DST
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: LiteratureCreated: 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
Gene: dst has been classified as Green List (High Evidence).
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
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
Publications for gene: DST were set to
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