Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: C9orf72Comment 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: 1.56
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
Comment when marking as ready: True disease gene but disease-causing repeats not detectable by short-read sequencersCreated: 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 technologyCreated: 10 May 2016, 11:14 a.m.
Mode of inheritance for gene: C9orf72 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: C9orf72 were changed from 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) to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
C9orf72 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene C9orf72 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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