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| Early onset or syndromic epilepsy v3.30 | CLCN3 | Arina Puzriakova Tag Q3_21_rating was removed from gene: CLCN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | CLCN3 | Arina Puzriakova edited their review of gene: CLCN3: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | CLCN3 |
Arina Puzriakova Source Expert Review Green was added to CLCN3. Source NHS GMS was added to CLCN3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.427 | CLCN3 | Arina Puzriakova Entity copied from Intellectual disability v3.1299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.427 | CLCN3 |
Arina Puzriakova gene: CLCN3 was added gene: CLCN3 was added to Genetic epilepsy syndromes. Sources: Expert Review Amber,Literature Q3_21_rating tags were added to gene: CLCN3. Mode of inheritance for gene: CLCN3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CLCN3 were set to 34186028 Phenotypes for gene: CLCN3 were set to Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 Mode of pathogenicity for gene: CLCN3 was set to Other |
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