| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early onset or syndromic epilepsy v4.110 | ASXL3 | Arina Puzriakova Tag Q1_23_promote_green was removed from gene: ASXL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.110 | ASXL3 | Arina Puzriakova reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v4.109 | ASXL3 |
Arina Puzriakova Source NHS GMS was added to ASXL3. Source Expert Review Green was added to ASXL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Early onset or syndromic epilepsy v3.25 | ASXL3 | Mafalda Gomes Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615115 to Bainbridge-Ropers syndrome, OMIM:615115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.25 | ASXL3 | Mafalda Gomes Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615115 to Bainbridge-Ropers syndrome, OMIM:615115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.25 | ASXL3 | Mafalda Gomes Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615115 to Bainbridge-Ropers syndrome, OMIM:615115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.25 | ASXL3 | Mafalda Gomes Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615115 to Bainbridge-Ropers syndrome, OMIM:615115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.24 | ASXL3 | Mafalda Gomes Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome to Bainbridge-Ropers syndrome, OMIM:615115 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.23 | ASXL3 | Mafalda Gomes Publications for gene: ASXL3 were set to 35172777; 27901041; 34436830; 33151654 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.23 | ASXL3 | Mafalda Gomes Publications for gene: ASXL3 were set to 35172777; 27901041; 34436830 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.22 | ASXL3 | Mafalda Gomes Tag Q1_23_promote_green tag was added to gene: ASXL3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.21 | ASXL3 | Mafalda Gomes reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 34436830, 33151654; Phenotypes: Bainbridge-Ropers syndrome, OMIM:615115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.20 | ASXL3 |
Mafalda Gomes Source Expert Review Amber was added to ASXL3. Mode of inheritance for gene ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Early onset or syndromic epilepsy v2.536 | ASXL3 |
Dmitrijs Rots gene: ASXL3 was added gene: ASXL3 was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASXL3 were set to 35172777; 27901041; 34436830 Phenotypes for gene: ASXL3 were set to Bainbridge-Ropers syndrome Penetrance for gene: ASXL3 were set to Complete Review for gene: ASXL3 was set to GREEN Added comment: In a review by Kuechler et al., seizures were reported in 3/15 cases. Additionally Khan et al., report a case with seizure onset since birth. In a description of novel 45 cases and review of previous 45 (n=90) by Schirwani et al., seizures were reported in 28/77 cases. Enough evidence for green rating also on this panel. Sources: Literature |
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