Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Autonomic neuropathy v0.50 DST Zornitza Stark Publications for gene: DST were set to
Autonomic neuropathy v0.49 DST Zornitza Stark Classified gene: DST as Green List (high evidence)
Autonomic neuropathy v0.49 DST Zornitza Stark Gene: dst has been classified as Green List (High Evidence).
Autonomic neuropathy v0.48 DST Alison Yeung edited their review of gene: DST: Added comment: Since first family published in 2012, there have been two other families published. This is a green gene in the hereditary neuropathy panel.; Changed rating: GREEN; Changed publications: 30371979, 28468842
Autonomic neuropathy v0.11 DST Alison Yeung Marked gene: DST as ready
Autonomic neuropathy v0.11 DST Alison Yeung Added comment: Comment when marking as ready: Single family reported 2012
Autonomic neuropathy v0.11 DST Alison Yeung Gene: dst has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.11 DST Alison Yeung Classified gene: DST as Red List (low evidence)
Autonomic neuropathy v0.11 DST Alison Yeung Gene: dst has been classified as Red List (Low Evidence).
Autonomic neuropathy v0.10 DST Alison Yeung 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
Added comment: single consanguineous family reported
Sources: Literature