| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cardiomyopathy_Paediatric v1.5 | DPM3 | Zornitza Stark Marked gene: DPM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.5 | DPM3 | Zornitza Stark Gene: dpm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.5 | DPM3 | Zornitza Stark Classified gene: DPM3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.5 | DPM3 | Zornitza Stark Gene: dpm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.4 | DPM3 |
Zornitza Stark gene: DPM3 was added gene: DPM3 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 35932216 Phenotypes for gene: DPM3 were set to DPM3-congenital disorder of glycosylation, MONDO:0013049 Review for gene: DPM3 was set to AMBER Added comment: PMID 35932216 reports 5 individuals from 4 families with biallelic homozygous missense DPM3 c.221A>G (p.Tyr74Cys) variants presenting with muscle weakness, developmental delay/intellectual disability, seizures, white‑matter abnormalities and childhood‑onset cardiomyopathy. Note that most individuals reported with DPM3 variants have had a predominantly skeletal muscle phenotype. AMBER rating as only a single variant has been associated with this much more extensive multi-system phenotype that includes paediatric cardiomyopathy. Sources: Literature |
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