Activity
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12 actions
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| Early onset or syndromic epilepsy v4.110 | CPLX1 | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: CPLX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.110 | CPLX1 | Arina Puzriakova reviewed gene: CPLX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.109 | CPLX1 |
Arina Puzriakova Source NHS GMS was added to CPLX1. Source Expert Review Green was added to CPLX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v3.90 | CPLX1 | Sarah Leigh edited their review of gene: CPLX1: Added comment: Associated with Developmental and epileptic encephalopathy 63 (OMIM:617976), but not associated with a phenotype in Gen2Phen. Three CPLX1 variants have been reported in three unrelated cases, who all have intellectual disability and seizures (PMID:26539891; 28422131).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.90 | CPLX1 | Sarah Leigh Classified gene: CPLX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.90 | CPLX1 | 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 v3.90 | CPLX1 | Sarah Leigh Gene: cplx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.89 | CPLX1 | Sarah Leigh Tag Q1_23_promote_green tag was added to gene: CPLX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.89 | CPLX1 | Sarah Leigh Phenotypes for gene: CPLX1 were changed from Epileptic encephalopathy, early infantile, 63, MIM# 617976 to Developmental and epileptic encephalopathy 63, OMIM:617976; developmental and epileptic encephalopathy, 63, MONDO:0033372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.88 | CPLX1 | Sarah Leigh Classified gene: CPLX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.88 | CPLX1 | Sarah Leigh Gene: cplx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.0 | CPLX1 |
Zornitza Stark gene: CPLX1 was added gene: CPLX1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPLX1 were set to 26539891; 28422131 Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976 Review for gene: CPLX1 was set to GREEN gene: CPLX1 was marked as current diagnostic Added comment: Five individuals from three unrelated families reported in larger neurodevelopmental cohorts. Sources: Expert list |
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