Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Childhood onset dystonia, chorea or related movement disorder v5.3 MT-TT Sarah Leigh Tag Q2_24_promote_green was removed from gene: MT-TT.
Tag Q2_24_expert_review was removed from gene: MT-TT.
Childhood onset dystonia, chorea or related movement disorder v5.3 MT-TT Sarah Leigh commented on gene: MT-TT: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains grey. Adding this gene to this panel is not consistent with the fact that there are no other similar presenting mitochondrial genes on this panel. Mitochondrial causes of childhood dystonia and movement disorders would be best tested off other more appropriate Clinical Indications.
Childhood onset dystonia, chorea or related movement disorder v4.6 MT-TT Sarah Leigh Classified gene: MT-TT as No list
Childhood onset dystonia, chorea or related movement disorder v4.6 MT-TT Sarah Leigh Added comment: Comment on list classification: On 18 Aug 2020, the status of MT-TT on the Childhood onset dystonia, chorea or related movement disorder panel was changed from Red to Grey (curator removed), based on a request from NHS England that this Mitochondrial gene should be removed from the panel. Would it be relevant to promote MT-TT to Green, now that there is further evidence to support the association between MT-TT variants and human disease?
Childhood onset dystonia, chorea or related movement disorder v4.6 MT-TT Sarah Leigh Gene: mt-tt has been removed from the panel.
Childhood onset dystonia, chorea or related movement disorder v4.5 MT-TT Sarah Leigh reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v4.5 MT-TT Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MT-TT.
Tag Q2_24_expert_review tag was added to gene: MT-TT.
Childhood onset dystonia, chorea or related movement disorder v4.5 MT-TT Sarah Leigh Publications for gene: MT-TT were set to
Childhood onset dystonia, chorea or related movement disorder v4.4 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from to mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy
Childhood onset dystonia, chorea or related movement disorder v1.83 MT-TT Arina Puzriakova Tag curated_removed tag was added to gene: MT-TT.
Childhood onset dystonia, chorea or related movement disorder v1.45 MT-TT Eleanor Williams changed review comment from: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop; to: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Rating changed from red to grey.
Childhood onset dystonia, chorea or related movement disorder v1.42 MT-TT Eleanor Williams Classified gene: MT-TT as No list
Childhood onset dystonia, chorea or related movement disorder v1.42 MT-TT Eleanor Williams Added comment: Comment on list classification: Mitochondrial gene removed from the panel at the request of NHS England following discussion at a Rare Disease workshop
Childhood onset dystonia, chorea or related movement disorder v1.42 MT-TT Eleanor Williams Gene: mt-tt has been removed from the panel.
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-TT Ellen McDonagh gene: MT-TT was added
gene: MT-TT was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL