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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. |
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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. |
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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) |
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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. |
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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. |
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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. |
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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 |
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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 |