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Childhood onset dystonia, chorea or related movement disorder v1.217 C9orf72_GGGGCC Eleanor Williams commented on STR: C9orf72_GGGGCC
Childhood onset dystonia, chorea or related movement disorder v1.217 C9orf72 Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.213 C9orf72_GGGGCC Arina Puzriakova Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24.
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200.
Childhood onset dystonia, chorea or related movement disorder v1.212 C9orf72 Sarah Leigh Tag Q4_21_MOI was removed from gene: C9orf72.
Tag Q4_21_rating was removed from gene: C9orf72.
Tag Q4_21_NHS_review was removed from gene: C9orf72.
Childhood onset dystonia, chorea or related movement disorder v1.212 C9orf72 Sarah Leigh commented on gene: C9orf72: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v1.211 C9orf72 Sarah Leigh Source Expert Review Red was added to C9orf72.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v1.205 C9orf72 Arina Puzriakova Tag Q4_21_NHS_review tag was added to gene: C9orf72.
Childhood onset dystonia, chorea or related movement disorder v1.180 C9orf72_GGGGCC Arina Puzriakova Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Childhood onset dystonia, chorea or related movement disorder v1.179 C9orf72 Arina Puzriakova commented on gene: C9orf72
Childhood onset dystonia, chorea or related movement disorder v1.179 C9orf72 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: C9orf72.
Childhood onset dystonia, chorea or related movement disorder v1.179 C9orf72 Arina Puzriakova Tag Q2_21_phenotype was removed from gene: C9orf72.
Tag Q2_21_expert_review was removed from gene: C9orf72.
Tag Q4_21_rating tag was added to gene: C9orf72.
Childhood onset dystonia, chorea or related movement disorder v1.179 C9orf72 Arina Puzriakova Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Tag Q2_21_rating was removed from STR: C9orf72_GGGGCC.
Tag STR tag was added to STR: C9orf72_GGGGCC.
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Tag STR was removed from STR: C9orf72_GGGGCC.
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Classified STR: C9orf72_GGGGCC as Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Added comment: Comment on list classification: Reviews for C9orf72 gene on this panel from Zornitza Stark (Australian Genomics), James Polke (North Thames GLH) & Helen Brittain (Genomics England Clinical Fellow)(https://panelapp.genomicsengland.co.uk/panels/847/gene/C9orf72/#!review), together recommend a Red rating, as the phenotype associated with this variant in this gene has an adult onset and is therefore not appropriate for a childhood gene panel.
Childhood onset dystonia, chorea or related movement disorder v1.137 C9orf72_GGGGCC Sarah Leigh Str: c9orf72_ggggcc has been classified as Red List (Low Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.136 C9orf72 Sarah Leigh edited their review of gene: C9orf72: Added comment: Helen Brittain (Genomics England Clinical Fellow) suggested a Red rating, as the phenotype associated with variants in this gene has an adult onset and therefore is not appropriate for a childhood gene panel.; Changed rating: RED
Childhood onset dystonia, chorea or related movement disorder v1.114 C9orf72 Sarah Leigh reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.114 C9orf72 Sarah Leigh Tag Q2_21_phenotype tag was added to gene: C9orf72.
Tag Q2_21_expert_review tag was added to gene: C9orf72.
Childhood onset dystonia, chorea or related movement disorder v1.114 C9orf72 James Polke reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v1.110 C9orf72_GGGGCC Sarah Leigh Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Childhood onset dystonia, chorea or related movement disorder v1.109 C9orf72 Sarah Leigh Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Childhood onset dystonia, chorea or related movement disorder v1.108 C9orf72 Sarah Leigh Publications for gene: C9orf72 were set to
Childhood onset dystonia, chorea or related movement disorder v1.107 C9orf72_GGGGCC Sarah Leigh Tag Q2_21_rating tag was added to STR: C9orf72_GGGGCC.
Childhood onset dystonia, chorea or related movement disorder v1.107 C9orf72_GGGGCC Sarah Leigh Classified STR: C9orf72_GGGGCC as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v1.107 C9orf72_GGGGCC Sarah Leigh Str: c9orf72_ggggcc has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v1.106 C9orf72_GGGGCC Sarah Leigh STR: C9orf72_GGGGCC was added
STR: C9orf72_GGGGCC was added to Childhood onset dystonia or chorea or related movement disorder. Sources: NHS GMS,Expert Review Green,London North GLH,Expert list
STR tags were added to STR: C9orf72_GGGGCC.
Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Childhood onset dystonia, chorea or related movement disorder v1.49 C9orf72 Zornitza Stark changed review comment from: Dystonia is well described but this appears to be an adult-onset disorder.; to: Dystonia is well described but this appears to be an adult-onset disorder. Also note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene.
Childhood onset dystonia, chorea or related movement disorder v1.49 C9orf72 Zornitza Stark reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: None; Publications: 26166205, 24363131, 26187722; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v0.33 C9orf72 Ellen McDonagh Mode of inheritance for gene: C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset dystonia, chorea or related movement disorder v0.32 C9orf72 Ellen McDonagh Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Childhood onset dystonia, chorea or related movement disorder v0.0 C9orf72 Ellen McDonagh gene: C9orf72 was added
gene: C9orf72 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green
Mode of inheritance for gene: C9orf72 was set to