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| Intellectual disability - microarray and sequencing v3.1514 | LIAS | Arina Puzriakova Tag for-review was removed from gene: LIAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1510 | LIAS | Sarah Leigh commented on gene: LIAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1509 | LIAS |
Arina Puzriakova Source Expert Review Green was added to LIAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v3.678 | LIAS | Eleanor Williams commented on gene: LIAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.678 | LIAS | Eleanor Williams Tag for-review tag was added to gene: LIAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.0 | LIAS | Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.979 | LIAS | Catherine Snow Mode of inheritance for gene LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.978 | LIAS |
Catherine Snow gene: LIAS was added gene: LIAS was added to Intellectual disability. Sources: Literature,Expert Review Amber Mode of inheritance for gene: LIAS was set to Publications for gene: LIAS were set to 22152680; 26108146; 24334290; 30914295 Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures, 614462 |
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| Intellectual disability - microarray and sequencing v2.954 | SLC9A6 | Rebecca Foulger changed review comment from: Comment on mode of inheritance: Changed the MOI from XLR to XLD based on Pescosolido et al., 2014 (PMID:25044251) who report mild to moderate ID in heterozygous female carriers.; to: Comment on mode of inheritance: Changed the MOI from XLR to XLD based on Pescosolido et al., 2014 (PMID:25044251) who report mild to moderate ID in heterozygous female carriers. Note that NHE6 is an alias for SLC9A6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||