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Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence)
Paediatric motor neuronopathies v2.6 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence).
Paediatric motor neuronopathies v2.3 AR_CAG Arina Puzriakova Tag Q2_21_rating was removed from STR: AR_CAG.
Paediatric motor neuronopathies v2.3 AR_CAG Arina Puzriakova edited their review of STR: AR_CAG: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Paediatric motor neuronopathies v1.76 AR_CAG Ivone Leong commented on STR: AR_CAG
Paediatric motor neuronopathies v1.74 AR_CAG Arina Puzriakova 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.
Paediatric motor neuronopathies v1.71 AR_CAG Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.

The AR gene was already Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/); however, this was 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.; to: 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.
Paediatric motor neuronopathies v1.67 AR_CAG Arina Puzriakova 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
Paediatric motor neuronopathies v1.66 AR_CAG Arina Puzriakova Publications for STR: AR_CAG were set to
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Tag STR tag was added to STR: AR_CAG.
Tag Q2_21_rating tag was added to STR: AR_CAG.
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Classified STR: AR_CAG as Amber List (moderate evidence)
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this STR to Green at the next GMS panel update.

The AR gene was already Green on this panel for Kennedy disease, MIM# 313200 (https://panelapp.genomicsengland.co.uk/panels/79/gene/AR/); however, this was 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.
Paediatric motor neuronopathies v1.65 AR_CAG Arina Puzriakova Str: ar_cag has been classified as Amber List (Moderate Evidence).
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova changed review comment from: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases.; to: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) has been added to this panel with the recommendation of a Green classification at the next GMS review, which is the appropriate route for detecting cases.
Paediatric motor neuronopathies v1.63 AR Arina Puzriakova Added comment: Comment on list classification: Nucleotide repeat expansion mechanism. In view of a lack of phenotypic relevance for SNVs and Kennedy disease (MIM# 313200), this gene should be downgraded to Red. The disease-relevant STR (i.e. AR_CAG) is already Green on this panel which is the appropriate route for detecting cases.
Paediatric motor neuronopathies v1.62 AR_CAG Dmitrijs Rots 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
Added comment: Sources: Literature
Paediatric motor neuronopathies v1.21 Louise Daugherty removed STR:AR_CAG from the panel
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Classified STR: AR_CAG as No list
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Added comment: Comment on list classification: Removed STR from Panel. This STR was not listed on the recent GMC STRs document supplied by Arianna Tucci
Paediatric motor neuronopathies v1.18 AR_CAG Louise Daugherty Str: ar_cag has been removed from the panel.
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Marked STR: AR_CAG as ready
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Str: ar_cag has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Marked STR: AR_CAG as ready
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Str: ar_cag has been classified as Red List (Low Evidence).
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Classified STR: AR_CAG as Red List (low evidence)
Paediatric motor neuronopathies v1.17 AR_CAG Arianna Tucci Str: ar_cag has been classified as Red List (Low Evidence).