Genes in panel

Neurodegenerative disorders - adult onset

Gene: C9orf72

Red List (low evidence)

C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 7 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

No evidence point mutation cause ALS
Created: 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)

Red List (low evidence)

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 Red
Created: 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)

I don't know

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Expert Review Red
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
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to C9orf72.

8 Jul 2019, Gel status: 1

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

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to C9orf72.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to C9orf72.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag currently-ngs-unreportable tag was added to gene: C9orf72.

18 Dec 2018, Gel status: 1

Added Tag

Rebecca Foulger (Genomics England curator)

Tag nucleotide-repeat-expansion tag was added to gene: C9orf72.

18 Dec 2018, Gel status: 1

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

18 Dec 2018, Gel status: 1

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

18 Dec 2018, Gel status: 1

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)