Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Mendeliome v2.0 PRICKLE1 Gene migrated from ENSG00000139174 to ENSG00000139174 (gene set migration)
Mendeliome v1.3584 PRICKLE1 chirag patel Tag disputed tag was added to gene: PRICKLE1.
Mendeliome v1.1451 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Red List (low evidence)
Mendeliome v1.1451 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Red List (Low Evidence).
Mendeliome v1.1450 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME and DISPUTED for AD epilepsy.; Changed rating: RED
Mendeliome v1.1450 PRICKLE1 Zornitza Stark Classified gene: PRICKLE1 as Amber List (moderate evidence)
Mendeliome v1.1450 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.1449 PRICKLE1 Zornitza Stark edited their review of gene: PRICKLE1: Added comment: Note all ClinVar entries for this gene are VOUS/LB/B. The variants reported in bi-allelic cases are almost all missense without further supportive data.; Changed rating: AMBER
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Marked gene: PRICKLE1 as ready
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Gene: prickle1 has been classified as Green List (High Evidence).
Mendeliome v0.13010 PRICKLE1 Zornitza Stark Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437
Mendeliome v0.13009 PRICKLE1 Zornitza Stark Publications for gene: PRICKLE1 were set to
Mendeliome v0.13008 PRICKLE1 Zornitza Stark Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.13007 PRICKLE1 Zornitza Stark reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRICKLE1 was set to Unknown