Activity

Filter

Cancel
Date Panel Item Activity
27 actions
Intellectual disability v9.301 TNR Arina Puzriakova Tag Q3_25_promote_green was removed from gene: TNR.
Intellectual disability v9.299 TNR Arina Puzriakova commented on gene: TNR: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Intellectual disability v9.298 TNR Arina Puzriakova Source NHS GMS was added to TNR.
Source Expert Review Green was added to TNR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v9.92 TNR Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: TNR.
Intellectual disability v9.92 TNR Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - at least 7 unrelated cases with cognitive impairment associated with variants in this gene.; to: Comment on list classification: There is sufficient evidence to rate this gene Green at the next GMS panel update. Impaired intellectual development noted in multiple individuals with biallelic variants in this gene, although the severity was highly variable and no formal neuropsychological testing was done. Nonetheless, cognitive developmental delay was recorded as moderate in at least 5 unrelated cases which supports inclusion on the panel.
Intellectual disability v9.92 TNR Arina Puzriakova Tag Q3_25_promote_green was removed from gene: TNR.
Intellectual disability v9.92 TNR Arina Puzriakova Publications for gene: TNR were updated from 22730557; 32099069 to 28334938; 32099069
Intellectual disability v9.91 TNR Arina Puzriakova Publications for gene: TNR were set to 32099069
Intellectual disability v9.91 TNR Arina Puzriakova Phenotypes for gene: TNR were changed from Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653 to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653
Intellectual disability v9.90 TNR Arina Puzriakova Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, OMIM:619653
Intellectual disability v9.89 TNR Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: TNR.
Intellectual disability v3.1511 TNRC6B Arina Puzriakova Tag for-review was removed from gene: TNRC6B.
Intellectual disability v3.1510 TNRC6B Sarah Leigh commented on gene: TNRC6B
Intellectual disability v3.1509 TNRC6B Arina Puzriakova Source Expert Review Green was added to TNRC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.375 TNRC6B Arina Puzriakova Tag for-review tag was added to gene: TNRC6B.
Intellectual disability v3.375 TNRC6B Arina Puzriakova Classified gene: TNRC6B as Amber List (moderate evidence)
Intellectual disability v3.375 TNRC6B Arina Puzriakova Gene: tnrc6b has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.374 TNRC6B Arina Puzriakova Phenotypes for gene: TNRC6B were changed from to Global developmental delay; Intellectual disability; Autistic behaviour
Intellectual disability v3.373 TNRC6B Arina Puzriakova Publications for gene: TNRC6B were set to
Intellectual disability v3.372 TNRC6B Arina Puzriakova Mode of inheritance for gene: TNRC6B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.294 TNR Arina Puzriakova Classified gene: TNR as Amber List (moderate evidence)
Intellectual disability v3.294 TNR Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene GREEN at the next major review - at least 7 unrelated cases with cognitive impairment associated with variants in this gene.
Intellectual disability v3.294 TNR Arina Puzriakova Gene: tnr has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.293 TNR Arina Puzriakova reviewed gene: TNR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22730557, 32099069; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.35 TNRC6B Konstantinos Varvagiannis reviewed gene: TNRC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v3.3 TNR Zornitza Stark gene: TNR was added
gene: TNR was added to Intellectual disability. Sources: Expert list
Mode of inheritance for gene: TNR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNR were set to 32099069
Phenotypes for gene: TNR were set to Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Review for gene: TNR was set to GREEN
gene: TNR was marked as current diagnostic
Added comment: 13 individuals from 8 unrelated families reported.
Sources: Expert list
Intellectual disability v2.468 TNRC6B Louise Daugherty gene: TNRC6B was added
gene: TNRC6B was added to Intellectual disability. Sources: Victorian Clinical Genetics Services
Mode of inheritance for gene: TNRC6B was set to