Adult onset neurodegenerative disorder
Gene: C9orf72EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 7 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 8 Nov 2021, 11:13 a.m. | Last Modified: 8 Nov 2021, 11:13 a.m.
Panel Version: 2.219
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
No evidence point mutation cause ALSCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
Caused by repeat expansion (Green gene in multiple subpanels). Loss-of-function and missense variants are not known to be relevant in this gene.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Complex parkinsonism; Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; clinical presentation suggestive of cortico-basal/PSP syndrome; (Hexanucleotideexpansion); Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; Hexanucleotide repeat expansion; amyotrophic lateral sclerosis; frontotemporal dementia
Details
- Mode of Inheritance
- Other
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- South West GLH
- Expert Review Red
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
- Tags
- OMIM
- 614260
- Clinvar variants
- Variants in C9orf72
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Intellectual disability
- Amyotrophic lateral sclerosis/motor neuron disease
- Adult onset neurodegenerative disorder
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: C9orf72 were changed from complex parkinsonism; Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; clinical presentation suggestive of cortico-basal/PSP syndrome; (Hexanucleotideexpansion); Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; Hexanucleotide repeat expansion; amyotrophic lateral sclerosis; frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to C9orf72.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to C9orf72.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to C9orf72.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Added Tag
Rebecca Foulger (Genomics England curator)Tag currently-ngs-unreportable tag was added to gene: C9orf72.
Added Tag
Rebecca Foulger (Genomics England curator)Tag nucleotide-repeat-expansion tag was added to gene: C9orf72.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; Hexanucleotide repeat expansion; amyotrophic lateral sclerosis; frontotemporal dementia for gene: C9orf72
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis; Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3 for gene: C9orf72
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: C9orf72 was added gene: C9orf72 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098 Phenotypes for gene: C9orf72 were set to clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism; (Hexanucleotideexpansion)