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| Early onset or syndromic epilepsy v3.31 | ISCA-37423-Gain | Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Following Genomics England clinical review and NHS Genomic Medicine Service approval, the genomic coordinates and triplosensitivity score (from 3 to 2) of this region were updated based on ClinGen Region Curation Results (version on 05 Aug 2022). Regardless of the change in triplosensitivity score, it was deemed appropriate for this regions to remain green as evidence to support pathogenicity remains.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v3.31 | ISCA-37423-Gain |
Arina Puzriakova GRCh38 position for ISCA-37423-Gain was changed from 8261773-11908210 to 8242542-11908820. Triplosensitivity Score for ISCA-37423-Gain was changed from 3 to 2. |
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| Early onset or syndromic epilepsy v2.595 | ISCA-37423-Gain | Arina Puzriakova edited their review of Region: ISCA-37423-Gain: Added comment: Only two cases with epilepsy have been reported to date. Following consultation with Clinical team, decided to maintain Green rating as CNVs with variable penetrance are reported in clinical practice and can be relevant diagnostically; however, adding watchlist tag to monitor for clear evidence of particularly reduced penetrance at which stage the rating may be reviewed.; Changed publications to: 26097203 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.595 | ISCA-37423-Gain | Arina Puzriakova Tag watchlist tag was added to Region: ISCA-37423-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37423-Gain | Arina Puzriakova commented on Region: ISCA-37423-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37423-Gain |
Arina Puzriakova Haploinsufficiency Score for ISCA-37423-Gain was changed from None to . Required Overlap Percentage for ISCA-37423-Gain was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v1.244 | ISCA-37423-Gain |
Rebecca Foulger Haploinsufficiency Score for ISCA-37423-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37423-Gain. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-37423-Gain | Rebecca Foulger reviewed Region: ISCA-37423-Gain: Rating: ; Mode of pathogenicity: None; Publications: 28533195; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-37423-Gain |
Louise Daugherty Region: ISCA-37423-Gain was added Region: ISCA-37423-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37423-Gain were set to 21933911; 23345203 Phenotypes for Region: ISCA-37423-Gain were set to Behavioral problems, cleft lip and/or palate, macrocephaly, and seizures were confirmed as additional features among the new patients, and novel features included neonatal respiratory distress, attention deficit hyperactivity disorder (ADHD), ocular anomalies, balance problems, hypotonia, and hydrocele.; mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly); congenital heart disease; 8p23.1 duplication syndrome |
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