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  2. Incidentalome
  3. C9orf72
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Incidentalome

Gene: C9orf72

No list
C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 8 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Added as an STR to panel under FTDALS
Created: 29 Aug 2021, 3:52 a.m. | Last Modified: 29 Aug 2021, 3:52 a.m.
Panel Version: 0.76
Created: 29 Aug 2021, 3:52 a.m.
Last Modified: 29 Aug 2021, 3:52 a.m.
Panel version: 0.76

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 25 Aug 2020, 10:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

Publications

Created: 25 Aug 2020, 10:03 a.m.

Panel version: Imported from Early-onset Dementia panel version 0.64

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Removed
  • Expert list
  • Victorian Clinical Genetics Services
Tags
STR
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None
Panels with this gene

History Filter Activity

29 Aug 2021, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c9orf72 has been removed from the panel.

17 Apr 2020, Gel status: 3

Added Tag

Bryony Thompson (Royal Melbourne Hospital)

Tag STR tag was added to gene: C9orf72.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: C9orf72 was added gene: C9orf72 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: C9orf72 was set to Unknown