| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Multiple pterygium syndrome_Fetal akinesia sequence v0.26 | TPM2 | Zornitza Stark Marked gene: TPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.26 | TPM2 | Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.26 | TPM2 | Zornitza Stark Classified gene: TPM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.26 | TPM2 | Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v0.25 | TPM2 |
Zornitza Stark gene: TPM2 was added gene: TPM2 was added to Multiple pterygium syndrome. Sources: Literature Mode of inheritance for gene: TPM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TPM2 were set to 33558124; 32092148 Phenotypes for gene: TPM2 were set to Multiple pterygium syndrome Review for gene: TPM2 was set to GREEN Added comment: Mono-allelic variants: three unrelated individuals reported with more severe multiple pterygium phenotype and recurrent missense, demonstrated de novo in two PMID 32092148. PMID 33558124: fetus with multiple pterygium syndrome and homozygous canonical splice site variant. This is the second report of bi-allelic disease, the previously reported individual presented with congenital myopathy. Sources: Literature |
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