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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 Added comment: Comment on list classification: This STR is rated as amber, as it is not NGS validated.
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.
Hereditary neuropathy v1.493 LRP12_CGG Arina Puzriakova LRP12 was changed to LRP12_CGG
Source Literature was removed from STR: LRP12_CGG.
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.
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).