| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Adult onset neurodegenerative disorder v4.37 | SS18L1 | Eleanor Williams Tag gene-checked tag was added to gene: SS18L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.37 | SS18L1 | Eleanor Williams commented on gene: SS18L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.37 | SS18L1 | Sarah Leigh Tag Q2_23_promote_green was removed from gene: SS18L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.37 | SS18L1 | Sarah Leigh changed review comment from: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.37 | SS18L1 | Sarah Leigh edited their review of gene: SS18L1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.36 | SS18L1 |
Sarah Leigh Source Expert Review Green was added to SS18L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset neurodegenerative disorder v4.10 | SS18L1 | Sarah Leigh Tag Q2_23_promote_green tag was added to gene: SS18L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.10 | SS18L1 | Sarah Leigh Classified gene: SS18L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.10 | SS18L1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.10 | SS18L1 | Sarah Leigh Gene: ss18l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.9 | SS18L1 | Sarah Leigh reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.168 | SS18L1 | Ivone Leong Phenotypes for gene: SS18L1 were changed from Amyotrophic lateral sclerosis 105400 to Amyotrophic lateral sclerosis, MONDO:0004976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.167 | SS18L1 | Ivone Leong Publications for gene: SS18L1 were set to 23708140; 24360741 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.16 | SS18L1 | Zornitza Stark reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25888396, 24360741, 23708140, 30976389; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | SS18L1 | Louise Daugherty commented on gene: SS18L1: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.105 | SS18L1 |
Louise Daugherty Source Expert Review Amber was added to SS18L1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Adult onset neurodegenerative disorder v1.74 | SS18L1 | Louise Daugherty reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | SS18L1 | Nick Beauchamp reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708140, 24360741; Phenotypes: Amyotrophic lateral sclerosis, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.70 | SS18L1 |
Louise Daugherty Mode of inheritance for gene SS18L1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis 105400 for gene: SS18L1 Publications for gene SS18L1 were changed from to 23708140; 24360741 |
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| Adult onset neurodegenerative disorder v1.66 | SS18L1 | Louise Daugherty Source NHS GMS was added to SS18L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.65 | SS18L1 | Louise Daugherty Source Yorkshire and North East GLH was added to SS18L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.64 | SS18L1 |
Louise Daugherty gene: SS18L1 was added gene: SS18L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for gene: SS18L1 was set to |
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