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| Severe microcephaly v3.5 | SLC38A3 | Arina Puzriakova Tag Q3_22_rating was removed from gene: SLC38A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | SLC38A3 | Arina Puzriakova reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.4 | SLC38A3 |
Arina Puzriakova Source Expert Review Green was added to SLC38A3. Source NHS GMS was added to SLC38A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.315 | SLC38A3 |
Catherine Snow changed review comment from: New gene added by Konstantinos Varvagiannis. There is sufficient evidence to promote to Green at the next GMS panel update. Gene phenotype relationship captured by OMIM, G2P and PanelApp Australia. Marafi et al PMID: 34605855 describes 7 families accounting for 10 individuals all with ID or global DD; to: New gene added by Konstantinos Varvagiannis. There is sufficient evidence to promote to Green at the next GMS panel update. Gene phenotype relationship captured by OMIM, G2P and PanelApp Australia. Marafi et al PMID: 34605855 describes 7 families accounting for 10 individuals. 8/10 reported to have Microcephaly and and was more commonly postnatal and/or progressive. |
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| Severe microcephaly v2.315 | SLC38A3 | Catherine Snow Entity copied from Intellectual disability v3.1650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.315 | SLC38A3 |
Catherine Snow gene: SLC38A3 was added gene: SLC38A3 was added to Severe microcephaly. Sources: Literature,Other,Expert Review Amber Q3_22_rating tags were added to gene: SLC38A3. Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A3 were set to 34605855 Phenotypes for gene: SLC38A3 were set to Developmental and epileptic encephalopathy 102, 619881 Penetrance for gene: SLC38A3 were set to Complete |
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