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| Early onset or syndromic epilepsy v2.500 | ISCA-37432-Gain | Arina Puzriakova commented on Region: ISCA-37432-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37432-Gain |
Arina Puzriakova GRCh38 position for ISCA-37432-Gain was changed from 36458167-37854617 to 36458167-37854616. Haploinsufficiency Score for ISCA-37432-Gain was changed from None to . Required Overlap Percentage for ISCA-37432-Gain was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v1.247 | ISCA-37432-Gain |
Rebecca Foulger Haploinsufficiency Score for ISCA-37432-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37432-Gain. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-37432-Gain | Rebecca Foulger commented on Region: ISCA-37432-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-37432-Gain |
Louise Daugherty Region: ISCA-37432-Gain was added Region: ISCA-37432-Gain was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37432-Gain were set to developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia; Speech and language delay; Seizures (not all); Chromosome 17q12 duplication syndrome; 614526; Behavioural difficulties |
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