Childhood onset dystonia, chorea or related movement disorder
Gene: C9orf72Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. Gene should be demoted to Red and MOI should be changed to 'Other' to maintain consistency with other panels.Created: 8 Nov 2021, 11:13 a.m. | Last Modified: 8 Nov 2021, 11:13 a.m.
Panel Version: 1.179
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
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.Created: 22 Jul 2021, 1:09 p.m. | Last Modified: 22 Jul 2021, 1:09 p.m.
Panel Version: 1.136
GMS review is requested in regard to reviews by Zornitza Stark & James Polke that C9orf72 gene is not appropriate for this adult onset panel.Created: 19 May 2021, 12:03 p.m. | Last Modified: 19 May 2021, 12:03 p.m.
Panel Version: 1.114
This is included as a gene to be sequenced (as opposed to the STR entry for this gene in PanelApp: C9orf72_GGGGCC), but there is no evidence that sequence changes in C9orf72 cause FTD/ALS or related conditions. In addition, it is an adult-onset condition and should not be in this childhood onset panel.Created: 19 May 2021, 10:46 a.m. | Last Modified: 19 May 2021, 10:46 a.m.
Panel Version: 1.114
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.Created: 5 Sep 2020, 4:15 a.m. | Last Modified: 5 Sep 2020, 4:22 a.m.
Panel Version: 1.49
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550
Publications
Suggested by Huw and RaquelCreated: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
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.
Source Expert Review Red was added to C9orf72. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q4_21_NHS_review tag was added to gene: C9orf72.
Tag Q4_21_MOI tag was added to gene: C9orf72.
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.
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
Tag Q2_21_phenotype tag was added to gene: C9orf72. Tag Q2_21_expert_review tag was added to gene: C9orf72.
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
Publications for gene: C9orf72 were set to
Mode of inheritance for gene: C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
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