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| Mendeliome v1.14 | SLC38A3 | Zornitza Stark Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.13 | SLC38A3 | Zornitza Stark reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10840 | SLC38A3 | Zornitza Stark Marked gene: SLC38A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10840 | SLC38A3 | Zornitza Stark Gene: slc38a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10840 | SLC38A3 | Zornitza Stark Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10839 | SLC38A3 | Zornitza Stark Classified gene: SLC38A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10839 | SLC38A3 | Zornitza Stark Gene: slc38a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10836 | SLC38A3 |
Ain Roesley changed review comment from: 7 families 6 of whom are consanguineous but unique variants in all of them Acquired microcephaly noted (8/10 with <-2 SD, 5/10 <-3 SD) 10/10 with axial hopotonia, absent speech, GDD/ID 9/10 with visual impairment 8/10 with seizures 8/10 with peripheral hypertonia Sources: Literature; to: 7 families 6 of whom are consanguineous but unique variants in all of them Acquired microcephaly noted (8/10 with >-2 SD, 5/10 >-3 SD) 10/10 with axial hopotonia, absent speech, GDD/ID 9/10 with visual impairment 8/10 with seizures 8/10 with peripheral hypertonia Sources: Literature |
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| Mendeliome v0.10836 | SLC38A3 |
Ain Roesley gene: SLC38A3 was added gene: SLC38A3 was added to Mendeliome. Sources: Literature 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 epileptic encephalopathy, SLC38A3-related MONDO:0100062 Review for gene: SLC38A3 was set to GREEN gene: SLC38A3 was marked as current diagnostic Added comment: 7 families 6 of whom are consanguineous but unique variants in all of them Acquired microcephaly noted (8/10 with <-2 SD, 5/10 <-3 SD) 10/10 with axial hopotonia, absent speech, GDD/ID 9/10 with visual impairment 8/10 with seizures 8/10 with peripheral hypertonia Sources: Literature |
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