Paediatric motor neuronopathies
STR: AR_CAGSTR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 11:36 a.m. | Last Modified: 15 Mar 2022, 11:36 a.m.
Panel Version: 1.76
The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:39 p.m. | Last Modified: 1 Feb 2023, 3:14 p.m.
Panel Version: 2.6
Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.
The AR gene was Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/); however, this has been flagged to be downgraded as the disease mechanism is an expansion of 36 or more CAG trinucleotide repeats in the AR gene and there is a lack of phenotypic relevance for SNVs. STR testing is appropriate route for detecting cases.Created: 1 Jul 2021, 1:37 p.m. | Last Modified: 11 Nov 2021, 3:20 p.m.
Panel Version: 1.71
Sources: LiteratureCreated: 8 Jun 2021, 7:06 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
spinal and bulbar muscular atrophy; gynecomastia; muscular weakness
Variants in this STR are reported as part of current diagnostic practice
Str: ar_cag has been classified as Green List (High Evidence).
Tag Q2_21_rating was removed from STR: AR_CAG.
GRCh37 position for AR_CAG was changed from - to 66765160-66765225. Normal Number of Repeats for AR_CAG was changed from 34 to 35. Source NHS GMS was added to STR: AR_CAG.
Phenotypes for STR: AR_CAG were changed from spinal and bulbar muscular atrophy; gynecomastia; muscular weakness to Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Publications for STR: AR_CAG were set to
Tag STR tag was added to STR: AR_CAG. Tag Q2_21_rating tag was added to STR: AR_CAG.
Str: ar_cag has been classified as Amber List (Moderate Evidence).
STR: AR_CAG was added STR: AR_CAG was added to Paediatric motor neuronopathies. Sources: Literature Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for STR: AR_CAG were set to spinal and bulbar muscular atrophy; gynecomastia; muscular weakness Penetrance for STR: AR_CAG were set to Complete Review for STR: AR_CAG was set to GREEN STR: AR_CAG was marked as current diagnostic