| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset hereditary spastic paraplegia v1.95 | AIMP1 | Ivone Leong Tag Q3_21_phenotype was removed from gene: AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | AIMP1 | Sarah Leigh commented on gene: AIMP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.94 | AIMP1 |
Ivone Leong Source Expert Review Amber was added to AIMP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.31 | AIMP1 | Arina Puzriakova Tag Q3_21_phenotype tag was added to gene: AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.31 | AIMP1 | Arina Puzriakova Classified gene: AIMP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.31 | AIMP1 |
Arina Puzriakova Added comment: Comment on list classification: Review of literature did not reveal any adult onset cases - infantile and childhood onset only. The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.31 | AIMP1 | Arina Puzriakova Gene: aimp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.30 | AIMP1 | Arina Puzriakova Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.29 | AIMP1 | Arina Puzriakova Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, OMIM:260600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.7 | AIMP1 | Zornitza Stark reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.148 | AIMP1 | Louise Daugherty commented on gene: AIMP1: Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.146 | AIMP1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.58 | AIMP1 | Louise Daugherty Publications for gene: AIMP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | AIMP1 | Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | AIMP1 | Louise Daugherty commented on gene: AIMP1: Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.52 | AIMP1 | Nick Beauchamp reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21092922, 30477741, 30486714; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | AIMP1 | Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | AIMP1 | James Polke reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | AIMP1 |
Louise Daugherty Source Expert Review Green was added to AIMP1. Mode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 for gene: AIMP1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.3 | AIMP1 | Louise Daugherty Source NHS GMS was added to AIMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | AIMP1 |
Louise Daugherty gene: AIMP1 was added gene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AIMP1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||