| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset hereditary spastic paraplegia v1.95 | CYP2U1 | Ivone Leong Tag Q2_21_expert_review was removed from gene: CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.95 | CYP2U1 | Sarah Leigh commented on gene: CYP2U1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.94 | CYP2U1 |
Ivone Leong Source Expert Review Amber was added to CYP2U1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Adult onset hereditary spastic paraplegia v1.17 | CYP2U1 |
Sarah Leigh changed review comment from: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the this - Hereditary spastic paraplegia - adult onset, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified. GMS opinion is sort on this issue.; to: The Q2_21_expert_review tag has been added to this gene as there is a conflict of opinion of the rating of CYP2U1 on the Hereditary spastic paraplegia - adult onset panel, as variants in CYP2U1 are usually associated with Spastic paraplegia 56, autosomal recessive OMIM:615030 in childhood. The green rating may be justified to ensure that edge cases may be identified. GMS opinion is sort on this issue. |
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| Adult onset hereditary spastic paraplegia v1.17 | CYP2U1 | Sarah Leigh reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.17 | CYP2U1 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.17 | CYP2U1 | Sarah Leigh Phenotypes for gene: CYP2U1 were changed from Spastic paraplegia 56, autosomal recessive, 615030 to Spastic paraplegia 56, autosomal recessive OMIM:615030; hereditary spastic paraplegia 56 MONDO:0014015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v1.7 | CYP2U1 | Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.148 | CYP2U1 | Louise Daugherty commented on gene: CYP2U1: 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 | CYP2U1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.81 | CYP2U1 | Louise Daugherty Publications for gene: CYP2U1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.54 | CYP2U1 | Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.53 | CYP2U1 | Louise Daugherty commented on gene: CYP2U1: 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 | CYP2U1 | Nick Beauchamp reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821, 24337409; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.6 | CYP2U1 | Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.5 | CYP2U1 | James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.4 | CYP2U1 |
Louise Daugherty Source Expert Review Green was added to CYP2U1. Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Adult onset hereditary spastic paraplegia v0.3 | CYP2U1 | Louise Daugherty Source NHS GMS was added to CYP2U1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset hereditary spastic paraplegia v0.2 | CYP2U1 |
Louise Daugherty gene: CYP2U1 was added gene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: CYP2U1 was set to |
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