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| Multiple pterygium syndrome_Fetal akinesia sequence v0.58 | MYBPC1 | Zornitza Stark Marked gene: MYBPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.58 | MYBPC1 | Zornitza Stark Gene: mybpc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.58 | MYBPC1 | Zornitza Stark Classified gene: MYBPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.58 | MYBPC1 | Zornitza Stark Gene: mybpc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.57 | MYBPC1 |
Zornitza Stark gene: MYBPC1 was added gene: MYBPC1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: MYBPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC1 were set to 22610851; 23873045 Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, MIM# 614915 Review for gene: MYBPC1 was set to AMBER Added comment: Two families reported with lethal congenital contractures, same small ethnic group and same variant, founder. However, gene is associated with a range of neuromuscular phenotypes, including milder forms of arthrogryposis, and zebrafish model is supportive. Sources: Expert Review |
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