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Early-onset Parkinson disease

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.
Created: 26 Mar 2020, 3:19 a.m. | Last Modified: 26 Mar 2020, 3:19 a.m.
Panel Version: 0.19
Parkinsonism is a common feature of the condition. A repeat expansion is the cause of disease for this gene.
Created: 24 Mar 2020, 9:10 p.m. | Last Modified: 26 Mar 2020, 3:19 a.m.
Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 24 Mar 2020, 9:10 p.m.
Last Modified: 26 Mar 2020, 3:19 a.m.
Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550
Tags
STR
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2020, Gel status: 0

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c9orf72 has been removed from the panel.

25 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550

25 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: C9orf72 were set to

25 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: C9orf72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c9orf72 has been classified as Green List (High Evidence).

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c9orf72 has been classified as Green List (High Evidence).

26 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c9orf72 has been classified as Red List (Low Evidence).

24 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: c9orf72 has been classified as Red List (Low Evidence).

24 Mar 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 Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: C9orf72 was set to Unknown