Activity
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15 actions
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| 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 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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| Hereditary neuropathy or pain disorder v6.9 | NOP56 | Arina Puzriakova Classified gene: NOP56 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.9 | NOP56 | Arina Puzriakova Added comment: Comment on list classification: Added to this panel by Alexander Rossor (UCL Institute of Neurology). Good evidence but mechanism of disease is repeat expansions (GGCCTG)n rather than SNVs and so rating the gene entity as Red. Added STR entity instead. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.9 | NOP56 | Arina Puzriakova Gene: nop56 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.8 | NOP56 |
Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: NOP56. Tag currently-ngs-unreportable tag was added to gene: NOP56. |
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| Hereditary neuropathy or pain disorder v6.8 | NOP56 | Arina Puzriakova Mode of inheritance for gene: NOP56 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.7 | NOP56 | Arina Puzriakova Phenotypes for gene: NOP56 were changed from ataxia; motor neuropathy to Spinocerebellar ataxia 36, OMIM:614153 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | NOP56 |
Alexander Rossor gene: NOP56 was added gene: NOP56 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: NOP56 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOP56 were set to 22492559: 22744658: 21683323 Phenotypes for gene: NOP56 were set to ataxia; motor neuropathy Penetrance for gene: NOP56 were set to Complete Review for gene: NOP56 was set to GREEN Added comment: Sources: Expert list |
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