Activity
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21 actions
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| Early onset or syndromic epilepsy v3.30 | CERS1 |
Arina Puzriakova Tag Q2_21_rating was removed from gene: CERS1. Tag Q3_21_expert_review was removed from gene: CERS1. Tag Q3_21_phenotype was removed from gene: CERS1. Tag Q3_22_NHS_review was removed from gene: CERS1. |
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| Early onset or syndromic epilepsy v3.29 | CERS1 | Arina Puzriakova reviewed gene: CERS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | CERS1 |
Arina Puzriakova Source Expert Review Green was added to CERS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.569 | CERS1 | Sarah Leigh Tag Q3_22_NHS_review tag was added to gene: CERS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.568 | CERS1 | Sarah Leigh Publications for gene: CERS1 were set to 19243074; 30800706; 21625621; 24782409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.543 | CERS1 | Helen Lord reviewed gene: CERS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33798445, 30800706, 27618929, 24782409; Phenotypes: progressive myoclonic epilepy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.430 | CERS1 |
Sarah Leigh changed review comment from: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.; to: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. However, the Q3_21_expert_review and Q3_21_phenotype tags have been added to this gene for an NHS review, because the phenotype associated with variants CERS1 includues progessive cognitive impairment and dementia. |
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| Early onset or syndromic epilepsy v2.430 | CERS1 |
Sarah Leigh Tag Q3_21_expert_review tag was added to gene: CERS1. Tag Q3_21_phenotype tag was added to gene: CERS1. |
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| Early onset or syndromic epilepsy v2.351 | CERS1 | Sarah Leigh Tag Q2_21_rating tag was added to gene: CERS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.351 | CERS1 | Sarah Leigh edited their review of gene: CERS1: Added comment: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least two missense variants reported in two unrelated cases, together with supportive functional evidence.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.351 | CERS1 | Sarah Leigh Classified gene: CERS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.351 | CERS1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.351 | CERS1 | Sarah Leigh Gene: cers1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.350 | CERS1 | Sarah Leigh Phenotypes for gene: CERS1 were changed from ?Epilepsy, progressive myoclonic, 8, 616230 to ?Epilepsy, progressive myoclonic, 8 OMIM:616230; progressive myoclonic epilepsy type 8 MONDO:0014545 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.349 | CERS1 | Sarah Leigh Publications for gene: CERS1 were set to 19243074; 30800706; 21625621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.348 | CERS1 | Sarah Leigh Publications for gene: CERS1 were set to 19243074; 30800706; 21625621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.347 | CERS1 | Sarah Leigh Publications for gene: CERS1 were set to 19243074 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CERS1 | Zornitza Stark reviewed gene: CERS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30800706, 21625621; Phenotypes: Epilepsy, progressive myoclonic, 8 MIM#616230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.189 | CERS1 | Rebecca Foulger reviewed gene: CERS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.188 | CERS1 | Tracy Lester reviewed gene: CERS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 19243074; Phenotypes: ?Epilepsy, progressive myoclonic, 8, 616230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v1.187 | CERS1 |
Rebecca Foulger gene: CERS1 was added gene: CERS1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CERS1 were set to 19243074 Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230 |
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