Activity
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24 actions
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| Hereditary neuropathy v1.495 | LRP12_CGG | Sarah Leigh Classified STR: LRP12_CGG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.495 | LRP12_CGG | Sarah Leigh Str: lrp12_cgg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.494 | LRP12_CGG | Sarah Leigh Tag NGS Not Validated tag was added to STR: LRP12_CGG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.494 | LRP12_CGG |
Sarah Leigh GRCh37 position for LRP12_CGG was changed from - to 105601201-105601227. GRCh38 position for LRP12_CGG was changed from 104588961-104588999 to 104588973-104588999. |
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| Hereditary neuropathy v1.493 | LRP12 | Dmitrijs Rots reviewed gene: LRP12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.493 | LRP12_CGG |
Arina Puzriakova LRP12 was changed to LRP12_CGG Source Literature was removed from STR: LRP12_CGG. |
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| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be rated in PanelApp at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 |
Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). The LRP12_CGG variant has not been verified by Clinical Team; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present. |
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| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh commented on STR: LRP12: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Tag STR tag was added to STR: LRP12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Tag STR tag was added to gene: LRP12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Classified STR: LRP12 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Added comment: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.487 | LRP12 | Sarah Leigh Str: lrp12 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.486 | LRP12 | Sarah Leigh Publications for STR: LRP12 were set to 39013564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.485 | LRP12 | Sarah Leigh Classified STR: LRP12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.485 | LRP12 | Sarah Leigh Str: lrp12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.484 | LRP12 | Sarah Leigh Publications for gene: LRP12 were set to 39013564 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.483 | LRP12 | Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.483 | LRP12 | Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.480 | LRP12 |
Alexander Rossor STR: LRP12 was added STR: LRP12 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for STR: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12 were set to 39013564 Phenotypes for STR: LRP12 were set to Motor axonal neuropathy Review for STR: LRP12 was set to GREEN Added comment: Sources: Literature |
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| Hereditary neuropathy v1.480 | LRP12 |
Alexander Rossor gene: LRP12 was added gene: LRP12 was added to Hereditary neuropathy. Sources: Literature Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LRP12 were set to 39013564 Phenotypes for gene: LRP12 were set to Motor axonal neuropathy Review for gene: LRP12 was set to GREEN Added comment: Trinucleotide repeat expansion, 44 patients with neuropathy in Japanese cohort Sources: Literature |
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