| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v0.37 | SMPD4 | Elena Savva Classified gene: SMPD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.37 | SMPD4 | Elena Savva Gene: smpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.36 | SMPD4 | Elena Savva Marked gene: SMPD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.36 | SMPD4 | Elena Savva Gene: smpd4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.36 | SMPD4 |
Elena Savva gene: SMPD4 was added gene: SMPD4 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to PMID: 36732302 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622 Review for gene: SMPD4 was set to GREEN Added comment: PMID: 36732302 - five individuals with microcephaly, brain anomalies and insulin-dependent diabetes in childhood. Reviews past reports, notes 27% of patients have insulin-dependent diabetes. Sources: Literature |
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