| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset hereditary spastic paraplegia v1.95 | AP4B1 | Sarah Leigh commented on gene: AP4B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | AP4B1 | Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.15 | AP4B1 |
Arina Puzriakova changed review comment from: Review of literature did not reveal any adult onset published cases. Tagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.1.12' panel.; to: Review of literature did not reveal any adult onset published cases. Tagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel. |
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| Adult onset hereditary spastic paraplegia v1.14 | AP4B1 | Arina Puzriakova Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.13 | AP4B1 | Arina Puzriakova Tag for-review tag was added to gene: AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.13 | AP4B1 | Arina Puzriakova commented on gene: AP4B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.7 | AP4B1 | Zornitza Stark reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.148 | AP4B1 | Louise Daugherty commented on gene: AP4B1: 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 | AP4B1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.62 | AP4B1 | Louise Daugherty Publications for gene: AP4B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | AP4B1 | Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | AP4B1 | Louise Daugherty commented on gene: AP4B1: 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 | AP4B1 | Nick Beauchamp reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21620353, 24700674; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | AP4B1 | Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | AP4B1 | James Polke reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | AP4B1 |
Louise Daugherty Source Expert Review Green was added to AP4B1. Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | AP4B1 | Louise Daugherty Source NHS GMS was added to AP4B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | AP4B1 |
Louise Daugherty gene: AP4B1 was added gene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4B1 was set to |
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