Amyotrophic lateral sclerosis/motor neuron disease
STR: C9orf72_GGGGCCSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:34 p.m. | Last Modified: 15 Mar 2022, 12:34 p.m.
Panel Version: 1.56
Comment on list classification: changed to green as diagnostic for ALSCreated: 5 Jun 2018, 10:51 a.m.
Comment on list classification: changed to green as diagnostic for ALSCreated: 5 Jun 2018, 10:51 a.m.
Normal Number of Repeats for C9orf72_GGGGCC was changed from 25 to 30.Created: 6 Jun 2018, 2:14 p.m.
Genomic coordinates have been changed to that for the STR in the reference genome.Created: 6 Jun 2018, 11:42 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, 10:07 a.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
Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Normal Number of Repeats for C9orf72_GGGGCC was changed from 30 to 24. Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 30 to 200. Source NHS GMS was added to STR: C9orf72_GGGGCC. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: C9orf72_GGGGCC were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
Pathogenic Number of Repeats for C9orf72_GGGGCC was changed from 60 to 30.
Normal Number of Repeats for C9orf72_GGGGCC was changed from 25 to 30. Panel: Amyotrophic lateral sclerosis/motor neuron disease
GRCh37 position for C9orf72_GGGGCC was changed from 27546543-27573864 to 27573527-27573544. Panel: Amyotrophic lateral sclerosis/motor neuron disease GRCh38 position for C9orf72_GGGGCC was changed from 27546545-27573866 to 27573529-27573546. Panel: Amyotrophic lateral sclerosis/motor neuron disease
Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Str: c9orf72_ggggcc has been classified as Red List (Low Evidence).
STR was added to STR: C9orf72_GGGGCC. Panel: Amyotrophic lateral sclerosis/motor neuron disease
STR: C9orf72_GGGGCC was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list
STR: C9orf72_GGGGCC was created by Ellen McDonagh