| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset neurodegenerative disorder v4.37 | NEK1 | Sarah Leigh Tag Q1_23_promote_green was removed from gene: NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.37 | NEK1 | Sarah Leigh edited their review of gene: NEK1: Added comment: 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.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v4.36 | NEK1 |
Sarah Leigh Source Expert Review Green was added to NEK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.58 | NEK1 |
Sarah Leigh changed review comment from: Associated with Amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM:617892), but not associated with a relevant phenotype in Gen2Phen. At least 12 NEK1 variants have been reported in amyotrophic lateral sclerosis cases (PMID: 30093141; 31768050; 26945885; 27455347), together with supportive functional studies (PMID: 2992911).; to: Associated with Amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM:617892), but not associated with a relevant phenotype in Gen2Phen. At least 12 NEK1 variants have been reported in amyotrophic lateral sclerosis cases (PMID: 30093141; 31768050; 26945885; 27455347), together with supportive functional studies (PMID: 2992911). ClinGen Definitive gene - disease classification (29/04/2022): https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_bb4f311c-df33-4d9e-8ac6-731b43b93615-2022-04-29T192526.542Z?page=1&size=25&search= |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.57 | NEK1 | Sarah Leigh edited their review of gene: NEK1: Added comment: Associated with Amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM:617892), but not associated with a relevant phenotype in Gen2Phen. At least 12 NEK1 variants have been reported in amyotrophic lateral sclerosis cases (PMID: 30093141; 31768050; 26945885; 27455347), together with supportive functional studies (PMID: 2992911).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.57 | NEK1 | Sarah Leigh Tag Q1_23_promote_green tag was added to gene: NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.57 | NEK1 | Sarah Leigh Classified gene: NEK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.57 | NEK1 | 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 v3.57 | NEK1 | Sarah Leigh Gene: nek1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.56 | NEK1 | Sarah Leigh Phenotypes for gene: NEK1 were changed from {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892 to {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892; amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v3.55 | NEK1 | Sarah Leigh Publications for gene: NEK1 were set to 29650794; 26945885; 30093141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.161 | NEK1 | Ivone Leong Phenotypes for gene: NEK1 were changed from Amyotrophic lateral sclerosis, susceptibility to, 24; 617892 to {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v2.16 | NEK1 | Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31768050, 26945885, 27455347, 29929116; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24 MIM#617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.106 | NEK1 | Louise Daugherty commented on gene: NEK1: 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 v1.74 | NEK1 | Louise Daugherty reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.72 | NEK1 | Nick Beauchamp reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26945885, 30093141, 29650794; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24, 617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.70 | NEK1 |
Louise Daugherty Mode of inheritance for gene NEK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24; 617892 for gene: NEK1 Publications for gene NEK1 were changed from to 29650794; 26945885; 30093141 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.66 | NEK1 | Louise Daugherty Source NHS GMS was added to NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.65 | NEK1 | Louise Daugherty Source Yorkshire and North East GLH was added to NEK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v1.64 | NEK1 |
Louise Daugherty gene: NEK1 was added gene: NEK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: NEK1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||