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| Intellectual disability syndromic and non-syndromic v0.4487 | ITSN1 | Zornitza Stark Marked gene: ITSN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4487 | ITSN1 | Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4487 | ITSN1 | Zornitza Stark Classified gene: ITSN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4487 | ITSN1 | Zornitza Stark Gene: itsn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4484 | ITSN1 |
Ee Ming Wong changed review comment from: -10 individuals from eight unrelated with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment. -variants included heterozygous premature truncating and missense variants -Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father Sources: Literature; to: -10 individuals from eight unrelated families with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment. -variants included heterozygous premature truncating and missense variants -Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.4484 | ITSN1 |
Ee Ming Wong gene: ITSN1 was added gene: ITSN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ITSN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITSN1 were set to PMID: 34707297 Phenotypes for gene: ITSN1 were set to neurodevelopmental disorder MONDO:0700092 ITSN1-related Penetrance for gene: ITSN1 were set to unknown gene: ITSN1 was marked as current diagnostic Added comment: -10 individuals from eight unrelated with neurodevelopmental disorder spectrum including ASD, ID, major behavioral difficulties and/or verbal impairment. -variants included heterozygous premature truncating and missense variants -Majority of variants were de novo; in two patients the reported variant was inherited from paucisymptomatic father Sources: Literature |
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