Activity
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15 actions
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| Intellectual disability v8.97 | CRELD1 | Sarah Leigh Tag Q3_24_promote_green was removed from gene: CRELD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | CRELD1 | Sarah Leigh reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.97 | CRELD1 |
Sarah Leigh Source NHS GMS was added to CRELD1. Source Expert Review Green was added to CRELD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v8.40 | CRELD1 | Arina Puzriakova Publications for gene: CRELD1 were set to 37947183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.39 | CRELD1 | Achchuthan Shanmugasundram Classified gene: CRELD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.39 | CRELD1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (>10 unrelated cases) for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.39 | CRELD1 | Achchuthan Shanmugasundram Gene: creld1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.38 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.38 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.38 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.37 | CRELD1 | Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.37 | CRELD1 | Achchuthan Shanmugasundram Publications for gene: CRELD1 were set to PMID: 37947183 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.36 | CRELD1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CRELD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.36 | CRELD1 | Achchuthan Shanmugasundram reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37947183; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.11 | CRELD1 |
Dmitrijs Rots gene: CRELD1 was added gene: CRELD1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRELD1 were set to PMID: 37947183 Review for gene: CRELD1 was set to GREEN Added comment: The papers reports: Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Sources: Literature |
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