Amyotrophic lateral sclerosis/motor neuron disease
STR: AR_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:35 a.m. | Last Modified: 15 Mar 2022, 11:35 a.m.
Panel Version: 1.56
Comment on list classification: changed to green as diagnostic for kennedy diseaseCreated: 5 Jun 2018, 10:50 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Publications
Variants in this STR are reported as part of current diagnostic practice
Str: ar_cag has been classified as Green List (High Evidence).
Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG. Rating Changed from Green List (high evidence) to Red List (low evidence)
Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases, OMIM:313200 to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Phenotypes for STR: AR_CAG were changed from Spinal and bulbar muscular atrophy or Kennedy diseases 313200 to Spinal and bulbar muscular atrophy or Kennedy diseases, OMIM:313200
Publications for STR: AR_CAG were set to 20301508; 2481485
GRCh38 position for AR_CAG was changed from 67545318-67545383 to 67545316-67545383. Mode of inheritance for STR: AR_CAG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Green List (high evidence) to Green List (high evidence)
Str: ar_cag has been classified as Green List (High Evidence).
Str: ar_cag has been classified as Red List (Low Evidence).
GRCh37 position for AR_CAG was changed from 66763874-66950461 to 66765160-66765225. Panel: Amyotrophic lateral sclerosis/motor neuron disease GRCh38 position for AR_CAG was changed from 67544032-67730619 to 67545318-67545383. Panel: Amyotrophic lateral sclerosis/motor neuron disease
STR was added to STR: AR_CAG. Panel: Amyotrophic lateral sclerosis/motor neuron disease
STR: AR_CAG was added to Amyotrophic lateral sclerosis/motor neuron disease panel. Sources: Expert list
STR: AR_CAG was created by Ellen McDonagh