| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple pterygium syndrome_Fetal akinesia sequence v0.67 | CNTNAP1 | Zornitza Stark Marked gene: CNTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.67 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.67 | CNTNAP1 | Zornitza Stark Classified gene: CNTNAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.67 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.66 | CNTNAP1 |
Zornitza Stark gene: CNTNAP1 was added gene: CNTNAP1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 24319099; 28254648 Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, MIM# 616286; MONDO:0014569 Review for gene: CNTNAP1 was set to GREEN Added comment: At least 5 unrelated families reported. Sources: Expert Review |
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