Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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. |
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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. |
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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. |
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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. |
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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 |
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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). |