| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic Diabetes v0.196 | MFN2 | Chirag Patel Marked gene: MFN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.196 | MFN2 | Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.196 | MFN2 | Chirag Patel Classified gene: MFN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.196 | MFN2 | Chirag Patel Gene: mfn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.195 | MFN2 |
Chirag Patel gene: MFN2 was added gene: MFN2 was added to Monogenic Diabetes. Sources: ClinGen Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFN2 were set to 8458227, 26114802, 26085578, 37162328, 28414270, 30158064 Phenotypes for gene: MFN2 were set to Multiple symmetric lipomatosis with partial lipodystrophy, MONDO:1060153 Review for gene: MFN2 was set to GREEN Added comment: ClinGen DEFINITIVE (Sep 2025) https://search.clinicalgenome.org/CCID:008970 All reported affected individuals carry p.Arg707Trp on one allele (they are either homozygous or compound het) - gnomAD v4.1 FAF 0.05440% Sources: ClinGen |
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