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| Amyotrophic lateral sclerosis/motor neuron disease v1.56 | AR_CAG | Ivone Leong commented on STR: AR_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.54 | AR_CAG | Arina Puzriakova Classified STR: AR_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.54 | AR_CAG | Arina Puzriakova Str: ar_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.51 | AR_CAG |
Arina Puzriakova 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) |
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| Amyotrophic lateral sclerosis/motor neuron disease v1.48 | AR_CAG | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.33 | AR_CAG | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.32 | AR_CAG | Arina Puzriakova Publications for STR: AR_CAG were set to 20301508; 2481485 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.31 | 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 was 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.30 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease v1.27 | AR_CAG |
Louise Daugherty 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) |
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| Amyotrophic lateral sclerosis/motor neuron disease | AR | Arianna Tucci marked STR: AR_CAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyotrophic lateral sclerosis/motor neuron disease | AR | Ellen McDonagh commented on STR: AR_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||