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| Intellectual disability syndromic and non-syndromic v1.185 | LGI1 |
Krithika Murali gene: LGI1 was added gene: LGI1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: LGI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LGI1 were set to PMID:40455867 Phenotypes for gene: LGI1 were set to Developmental and epileptic encephalopathy MONDO:0100062, LGI1-related Review for gene: LGI1 was set to GREEN Added comment: PMID: 40455867 report patients with biallelic variants in 6 individuals from 4 consanguineous families with a more severe DEE phenotype. All indivduals had seizures, global dev delay/ID and generalised hypotonia. Four out of five exhibited spasticity. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.6543 | IVD | Zornitza Stark Marked gene: IVD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6543 | IVD | Zornitza Stark Gene: ivd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6543 | IVD | Zornitza Stark Phenotypes for gene: IVD were changed from to isovaleric acidaemia MONDO:0009475 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6542 | IVD | Zornitza Stark Publications for gene: IVD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6541 | IVD | Zornitza Stark Mode of inheritance for gene: IVD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6528 | IVD | Sangavi Sivagnanasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 26018748; Phenotypes: isovaleric acidemia MONDO:0009475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4953 | IVD | Zornitza Stark Tag treatable tag was added to gene: IVD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | IVD |
Zornitza Stark gene: IVD was added gene: IVD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IVD was set to Unknown |
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