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| Multiple pterygium syndrome_Fetal akinesia sequence v0.70 | DNM2 | Zornitza Stark Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.70 | DNM2 | Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.70 | DNM2 | Zornitza Stark edited their review of gene: DNM2: Changed rating: RED; Changed phenotypes: Lethal congenital contracture syndrome 5, MIM# 615368 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.70 | DNM2 |
Zornitza Stark gene: DNM2 was added gene: DNM2 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: DNM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNM2 were set to 23092955 Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, MIM# 615368 Review for gene: DNM2 was set to AMBER Added comment: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease. Sources: Expert Review |
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