| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary neuropathy v1.441 | AR_CAG | Ivone Leong commented on STR: AR_CAG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.434 | 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. |
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| Hereditary neuropathy v1.430 | 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 of Kennedy, OMIM:313200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | AR_CAG | Louise Daugherty Classified STR: AR_CAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | AR_CAG | Louise Daugherty Added comment: Comment on list classification: Upgraded STR from Amber to Green due to feedback from Genomics England clinical team, due to re-analysing a few cases for diagnostic discovery there is enough evidence to support a Green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.368 | AR_CAG | Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.367 | AR_CAG | Louise Daugherty Added comment: Comment on publications: added publications to support upgrading from Amber to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.367 | AR_CAG | Louise Daugherty Publications for STR: AR_CAG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.366 | AR_CAG | Zerin Hyder reviewed STR: AR_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8469342, 15851746, 1449253; Phenotypes: Spinal and bulbar muscular atrophy or Kennedy diseases 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.317 | AR_CAG |
Louise Daugherty Source Expert list was removed from STR: AR_CAG. Source Expert Review was added to STR: AR_CAG. |
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| Hereditary neuropathy v1.302 | AR_CAG |
Louise Daugherty GRCh37 position for AR_CAG was changed from - to 66765160-66765225. GRCh38 position for AR_CAG was changed from 67544622-67730618 to 67545316-67545383. Normal Number of Repeats for AR_CAG was changed from 36 to 34. 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) |
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| Hereditary neuropathy v1.301 | AR_CAG | Louise Daugherty Classified STR: AR_CAG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.301 | AR_CAG | Louise Daugherty Added comment: Comment on list classification: New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.301 | AR_CAG | Louise Daugherty Str: ar_cag has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.81 | AR_CAG |
Alexander Rossor STR: Kennedy's disease was added STR: Kennedy's disease was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for STR: Kennedy's disease was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Penetrance for STR: Kennedy's disease were set to Complete Review for STR: Kennedy's disease was set to GREEN STR: Kennedy's disease was marked as current diagnostic Added comment: Motor axonal neuropathy Sources: Expert list |
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