Activity
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11 actions
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| Hereditary neuropathy or pain disorder v6.150 | NOP56_GGCCTG | Sarah Leigh changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion.; to: The rating of this STR has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.149 | NOP56_GGCCTG | Sarah Leigh changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to following NHS Genomic Medicine Service approval. This change has been checked with NTGLH and Alex Rosser confirmed rationale for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.149 | NOP56_GGCCTG |
Sarah Leigh Tag Q3_24_promote_green was removed from STR: NOP56_GGCCTG. Tag Q3_24_NHS_review was removed from STR: NOP56_GGCCTG. Tag Q3_24_expert_review was removed from STR: NOP56_GGCCTG. |
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| Hereditary neuropathy or pain disorder v6.149 | NOP56_GGCCTG | Sarah Leigh Classified STR: NOP56_GGCCTG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.149 | NOP56_GGCCTG | Sarah Leigh Str: nop56_ggcctg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.148 | NOP56_GGCCTG | Sarah Leigh reviewed STR: NOP56_GGCCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.11 | NOP56_GGCCTG | Arina Puzriakova Publications for STR: NOP56_GGCCTG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.10 | NOP56_GGCCTG |
Arina Puzriakova Tag Q3_24_promote_green tag was added to STR: NOP56_GGCCTG. Tag Q3_24_NHS_review tag was added to STR: NOP56_GGCCTG. Tag Q3_24_expert_review tag was added to STR: NOP56_GGCCTG. |
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| Hereditary neuropathy or pain disorder v6.10 | NOP56_GGCCTG |
Arina Puzriakova commented on STR: NOP56_GGCCTG: Gene entity was recently added by Alexander Rossor (UCL Institute of Neurology) indicating that NOP56 should be green on this panel (https://panelapp.genomicsengland.co.uk/panels/846/gene/NOP56/). Adding STR as mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs. Heterozygous expansion of an intronic GGCCTG hexanucleotide repeat in the NOP56 gene causes spinocerebellar ataxia-36 (SCA36), an adult-onset slowly progressive neurodegenerative disorder. EMG in cases with skeletal muscle atrophy has shown neurogenic changes, indicating a lower motor neuropathy (PMID: 21683323). Flagging for additional GMS review to determine whether inclusion on this panel is beneficial. Currently this STR is only included as part of the R54 Hereditary ataxia with onset in adulthood GMS panel (v7.0). |
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| Hereditary neuropathy or pain disorder v6.10 | NOP56_GGCCTG | Arina Puzriakova Entity copied from Hereditary neuropathy v1.489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.10 | NOP56_GGCCTG |
Arina Puzriakova STR: NOP56_GGCCTG was added STR: NOP56_GGCCTG was added to Hereditary neuropathy or pain disorder. Sources: NHS GMS,Expert Review Amber,Expert Review STR tags were added to STR: NOP56_GGCCTG. Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36, OMIM:614153 |
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