Activity
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9 actions
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| Hereditary neuropathy or pain disorder v6.139 | LRP12 | Sarah Leigh edited their review of gene: LRP12: Added comment: Apart from the LRP12_CGG variant, no other LRP12 variants have been associated with conditions in OMIM, G2P or Mondo.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.138 | LRP12_CGG | Sarah Leigh Classified STR: LRP12_CGG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.138 | LRP12_CGG | Sarah Leigh Added comment: Comment on list classification: This STR is rated as amber, because it is not yet NGS validated. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.138 | LRP12_CGG | Sarah Leigh Str: lrp12_cgg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.137 | LRP12_CGG |
Sarah Leigh Tag STR tag was added to STR: LRP12_CGG. Tag NGS Not Validated tag was added to STR: LRP12_CGG. |
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| Hereditary neuropathy or pain disorder v6.131 | LRP12_CGG |
Christopher Record STR: LRP12_CGG was added STR: LRP12_CGG was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for STR: LRP12_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12_CGG were set to 39013564 Phenotypes for STR: LRP12_CGG were set to CMT2, HMN Review for STR: LRP12_CGG was set to GREEN Added comment: CGG repeat expansion as cause for autosomal dominant inherited neuropathy in 44 Japanese patients STR only Sources: Literature |
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| Hereditary neuropathy or pain disorder v5.8 | 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). This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.; 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 or pain disorder v5.8 | 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). ; 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, it can not be added to PanelApp at present. |
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| Hereditary neuropathy or pain disorder v5.8 | 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).; 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||