Early onset dementia (encompassing fronto-temporal dementia and prion disease)

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 8 panels

2 reviews

simon mead (UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Caroline Wright (Genomics England Curator)

Comment when marking as ready: True disease gene but disease-causing repeats not detectable by short-read sequencers
Created: 10 May 2016, 11:14 a.m.
Comment on list classification: Excluded as only multiple hexanucleotide repeats reported clinically, which will not be detected using short-read NGS technology
Created: 10 May 2016, 11:14 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3
  • Amyotrophic Lateral Sclerosis/Frontotemporal Dementia
  • Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis
  • Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
Complete
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

10 Aug 2016, Gel status: 1

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for C9orf72 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 2

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

27 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN

27 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen, Illumina TruGenome Clinical Sequencing Services, UKGTN

27 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen, Illumina TruGenome Clinical Sequencing Services, UKGTN

27 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Radboud University Medical Center, Nijmegen, Illumina TruGenome Clinical Sequencing Services, UKGTN