Activity
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| Hereditary neuropathy or pain disorder v6.148 | MAPK8IP3 | Sarah Leigh changed review comment from: The request for MAPK8IP3 to be rated as green was refused by the NHS Genomic Medicine Service. This decision was made because the phenotype associated with MAPK8IP3 variants is broader than this panel (Hereditary neuropathy or pain disorder, R78) and is covered by the Paediatric disorders (R27) and Intellectual disability (R29) panels, where MAPK8IP3 already has a green rating.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. This decision was made because the phenotype associated with MAPK8IP3 variants is broader than this panel (Hereditary neuropathy or pain disorder, R78) and is covered by the Paediatric disorders (R27) and Intellectual disability (R29) panels, where MAPK8IP3 already has a green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.146 | MAPK8IP3 |
Sarah Leigh Tag Q3_24_promote_green was removed from gene: MAPK8IP3. Tag Q3_24_NHS_review was removed from gene: MAPK8IP3. Tag Q3_24_expert_review was removed from gene: MAPK8IP3. |
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| Hereditary neuropathy or pain disorder v6.146 | MAPK8IP3 | Sarah Leigh Publications for gene: MAPK8IP3 were set to 37462082: 30945334 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.145 | MAPK8IP3 | Sarah Leigh reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.137 | MAPK8IP3 | Eleanor Williams Classified gene: MAPK8IP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.137 | MAPK8IP3 | Eleanor Williams Added comment: Comment on list classification: Promoting to amber and tagging for promotion to green, but GLH expert review is needed to decide whether there is clear enough mode of inheritance data and a strong enough association with neuropathy to report diagnostically particularly for people with isolated neuropathy presentations who are more likely to be tested via this route. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.137 | MAPK8IP3 | Eleanor Williams Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.136 | MAPK8IP3 | Eleanor Williams Phenotypes for gene: MAPK8IP3 were changed from developmental delay; motor axonal neuropathy to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.135 | MAPK8IP3 | Eleanor Williams Mode of inheritance for gene: MAPK8IP3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.134 | MAPK8IP3 |
Eleanor Williams Tag Q3_24_promote_green tag was added to gene: MAPK8IP3. Tag Q3_24_NHS_review tag was added to gene: MAPK8IP3. Tag Q3_24_expert_review tag was added to gene: MAPK8IP3. |
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| Hereditary neuropathy or pain disorder v5.104 | MAPK8IP3 | Eleanor Williams commented on gene: MAPK8IP3: Awaiting clinical feedback before deciding on rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.104 | MAPK8IP3 | Eleanor Williams reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 37462082, 30945334, 30612693; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, neurodevelopmental disorder with or without variable brain abnormalities, NEDBA, MONDO:0032755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | MAPK8IP3 |
Alexander Rossor gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: MAPK8IP3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAPK8IP3 were set to 37462082: 30945334 Phenotypes for gene: MAPK8IP3 were set to developmental delay; motor axonal neuropathy Penetrance for gene: MAPK8IP3 were set to Complete Review for gene: MAPK8IP3 was set to GREEN Added comment: Sources: Expert list |
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