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| Intellectual disability syndromic and non-syndromic v0.5887 | TREX1 | Zornitza Stark Marked gene: TREX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5887 | TREX1 | Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5887 | TREX1 | Zornitza Stark Phenotypes for gene: TREX1 were changed from to Aicardi-Goutieres syndrome MONDO:0018866 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5886 | TREX1 | Zornitza Stark Publications for gene: TREX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5885 | TREX1 | Zornitza Stark Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5881 | TREX1 |
Hali Van Niel changed review comment from: Established gene disease association with Aicardi-Goutières Syndrome Heterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability TREX1-related Aicardi Goutières syndrome have higher impairment (31559893) ID common presenting feature (PMID: 25604658); to: Established gene disease association with Aicardi-Goutières Syndrome Heterogeneity with variable phenotype, ranges from preserved cognition to severe intellectual disability TREX1-related Aicardi Goutières syndrome have higher impairment (PMID: 31559893) ID common presenting feature (PMID: 25604658) |
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| Intellectual disability syndromic and non-syndromic v0.5881 | TREX1 | Hali Van Niel edited their review of gene: TREX1: Changed publications: 25604658, 16845398, 17357087, 31559893 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5881 | TREX1 | Hali Van Niel reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25604658, 16845398, 17357087; Phenotypes: Aicardi-Goutieres syndrome MONDO:0018866; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | TREX1 |
Zornitza Stark gene: TREX1 was added gene: TREX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TREX1 was set to Unknown |
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