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| Early onset or syndromic epilepsy v3.30 | ASH1L | Arina Puzriakova Publications for gene: ASH1L were set to 34373061; 25961944 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.29 | ASH1L |
Arina Puzriakova Tag Q3_22_rating was removed from gene: ASH1L. Tag Q3_22_expert_review was removed from gene: ASH1L. |
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| Early onset or syndromic epilepsy v3.29 | ASH1L | Arina Puzriakova reviewed gene: ASH1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.28 | ASH1L |
Arina Puzriakova Source Expert Review Green was added to ASH1L. Source NHS GMS was added to ASH1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v2.603 | ASH1L | Helen Lord reviewed gene: ASH1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 34373061, 25961944, 34782621, 32469098; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.538 | ASH1L |
Sarah Leigh changed review comment from: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMID 34373061 (table 1) has reported seizures in four unrelated cases with heterozygous ASH1L variants. Sources: Literature; to: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMID 34373061 (table 1) has reported seizures in four unrelated cases with heterozygous ASH1L variants. Decipher also reports four cases with seizures carrying ASH1L variants. Sources: Literature |
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| Early onset or syndromic epilepsy v2.538 | ASH1L |
Sarah Leigh changed review comment from: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMIDs 34373061 (table 1) has reported seizures in four unrelated cases with heterozygous ASH1L variants. Sources: Literature; to: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMID 34373061 (table 1) has reported seizures in four unrelated cases with heterozygous ASH1L variants. Sources: Literature |
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| Early onset or syndromic epilepsy v2.538 | ASH1L |
Sarah Leigh Tag Q3_22_rating tag was added to gene: ASH1L. Tag Q3_22_expert_review tag was added to gene: ASH1L. |
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| Early onset or syndromic epilepsy v2.538 | ASH1L | Sarah Leigh Classified gene: ASH1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.538 | ASH1L | Sarah Leigh Added comment: Comment on list classification: The opinion of a GMS expert is required, to decide whether or not this gene can be rated as green on the Genetic epilepsy syndromes panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.538 | ASH1L | Sarah Leigh Gene: ash1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.537 | ASH1L |
Sarah Leigh changed review comment from: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMIDs 34373061 & 25961944 have reported seizures in four unrelated cases with heterozygous ASH1L variants. Sources: Literature; to: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMIDs 34373061 (table 1) has reported seizures in four unrelated cases with heterozygous ASH1L variants. Sources: Literature |
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| Early onset or syndromic epilepsy v2.537 | ASH1L |
Sarah Leigh gene: ASH1L was added gene: ASH1L was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASH1L were set to 34373061; 25961944 Phenotypes for gene: ASH1L were set to Intellectual developmental disorder, autosomal dominant 52, OMIM:617796 Review for gene: ASH1L was set to AMBER Added comment: Associated with phenotype - OMIM:617796 and as strong Gen2Phen gene for intellectual disability. In addition, PMIDs 34373061 & 25961944 have reported seizures in four unrelated cases with heterozygous ASH1L variants. Sources: Literature |
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