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Intellectual disability

STR: C9orf72_GGGGCC

No list

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci.
Created: 5 Dec 2018, 6:27 p.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Normal Number of Repeats for C9orf72_GGGGCC was changed from 25 to 30.
Created: 6 Jun 2018, 2:12 p.m.
Genomic coordinates have been changed to that for the STR in the reference genome.
Created: 6 Jun 2018, 11:44 a.m.
Please note: The current genomic coordinates provided are for the C9orf72 gene and not for the STR region. These will be replaced once the location is confirmed.
Created: 31 May 2018, 4:14 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

6 Dec 2018, Gel status: 0

Changed Pathogenic Number of Repeats

Louise Daugherty (Genomics England Curator)

Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.

5 Dec 2018, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: c9orf72_ggggcc has been removed from the panel.

6 Jun 2018, Gel status: 1

Changed Normal Number of Repeats

Ellen McDonagh (Genomics England Curator)

Normal Number of Repeats for C9orf72_GGGGCC was changed from 25 to 30. Panel: Intellectual disability

6 Jun 2018, Gel status: 1

Changed GRCh37, Changed GRCh38

Ellen McDonagh (Genomics England Curator)

GRCh37 position for C9orf72_GGGGCC was changed from 27546543-27573864 to 27573527-27573544. Panel: Intellectual disability GRCh38 position for C9orf72_GGGGCC was changed from 27546545-27573866 to 27573529-27573546. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: C9orf72_GGGGCC. Panel: Intellectual disability

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: C9orf72_GGGGCC was added to Intellectual disability panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: C9orf72_GGGGCC was created by Ellen McDonagh