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Neurodegenerative disorders - adult onset

STR: C9orf72_GGGGCC

Green List (high evidence)

Chromosome: 9
GRCh37 Position: 27573527-27573544
GRCh38 Position: 27573529-27573546
Repeated Sequence: GGGGCC
Normal Number of Repeats: < or = 30
Pathogenic Number of Repeats: = or > 30

C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Onset in adulthood, rapidly progressive
Created: 23 Jul 2019, 4:53 p.m. | Last Modified: 23 Jul 2019, 4:53 p.m.
Panel Version: 1.75
Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Created: 9 Jul 2019, 10:27 a.m. | Last Modified: 9 Jul 2019, 10:27 a.m.
Panel Version: 1.59
Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:35 p.m. | Last Modified: 9 Jul 2019, 10:27 a.m.
Panel Version: 1.59
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert list
Created: 20 Dec 2018, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550

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

Details

Name
C9orf72_GGGGCC
Chromosome
9
GRCh37 Coordinates
27573527-27573544
GRCh38 Coordinates
27573529-27573546
Repeated Sequence
GGGGCC
Normal Number of Repeats: < or =
30
Pathogenic Number of Repeats: = or >
30
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Tags
STR
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None

History Filter Activity

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: C9orf72_GGGGCC.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to STR: C9orf72_GGGGCC.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: C9orf72_GGGGCC.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Parki

20 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: c9orf72_ggggcc has been classified as Green List (High Evidence).

20 Dec 2018, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

STR: C9orf72_GGGGCC was added STR: C9orf72_GGGGCC was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: C9orf72_GGGGCC. Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 Review for STR: C9orf72_GGGGCC was set to GREEN