Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Childhood onset dystonia, chorea or related movement disorder v3.50 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND5.
Childhood onset dystonia, chorea or related movement disorder v3.48 MT-ND5 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND5.
Childhood onset dystonia, chorea or related movement disorder v1.83 MT-ND5 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND5.
Childhood onset dystonia, chorea or related movement disorder v1.45 MT-ND5 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 green to grey.
Childhood onset dystonia, chorea or related movement disorder v1.14 MT-ND5 Eleanor Williams Classified gene: MT-ND5 as No list
Childhood onset dystonia, chorea or related movement disorder v1.14 MT-ND5 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 v1.14 MT-ND5 Eleanor Williams Gene: mt-nd5 has been removed from the panel.
Childhood onset dystonia, chorea or related movement disorder v0.217 MT-ND5 Louise Daugherty Phenotypes for gene: MT-ND5 were changed from MELAS SYNDROME to Leber Optic Atrophy And Dystonia
Childhood onset dystonia, chorea or related movement disorder v0.216 MT-ND5 Louise Daugherty Phenotypes for gene: MT-ND5 were changed from to MELAS SYNDROME
Childhood onset dystonia, chorea or related movement disorder v0.0 MT-ND5 Ellen McDonagh gene: MT-ND5 was added
gene: MT-ND5 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL