Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.41 | PIGG |
Arina Puzriakova Tag Q4_24_NHS_review was removed from gene: PIGG. Tag Q4_24_promote_green was removed from gene: PIGG. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.41 | PIGG | Achchuthan Shanmugasundram commented on gene: PIGG: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.40 | PIGG |
Arina Puzriakova Source NHS GMS was added to PIGG. Source Expert Review Green was added to PIGG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.143 | PIGG | Achchuthan Shanmugasundram Classified gene: PIGG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.143 | PIGG | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Christopher Record, there are six unrelated families reported with biallelic PIGG variants and hereditary motor neuropathy. Hence, this gene can be promoted to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.143 | PIGG | Achchuthan Shanmugasundram Gene: pigg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.142 | PIGG | Achchuthan Shanmugasundram Phenotypes for gene: PIGG were changed from HMN to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; childhood-onset motor neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.141 | PIGG |
Achchuthan Shanmugasundram Tag Q4_24_NHS_review tag was added to gene: PIGG. Tag Q4_24_promote_green tag was added to gene: PIGG. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.141 | PIGG | Achchuthan Shanmugasundram reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 39444079; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917, childhood-onset motor neuropathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.131 | PIGG |
Christopher Record gene: PIGG was added gene: PIGG was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGG were set to 39444079 Phenotypes for gene: PIGG were set to HMN Review for gene: PIGG was set to GREEN Added comment: Recessive variants in PIGG cause a inherited motor neuropathy with conduction block and/or temporal dispersion (39444079). This can be a pure neuropathy of part of a wider IGD syndrome to include cerebellar features, developmental delay, intellectual disability. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||