| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.139 | MAP3K20 | Zornitza Stark Marked gene: MAP3K20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.139 | MAP3K20 | Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.139 | MAP3K20 | Zornitza Stark Classified gene: MAP3K20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.139 | MAP3K20 | Zornitza Stark Gene: map3k20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.138 | MAP3K20 |
Zornitza Stark gene: MAP3K20 was added gene: MAP3K20 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: MAP3K20 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAP3K20 were set to 39648035; 38451290; 32266845; 32266845; 26755636; 26755636 Phenotypes for gene: MAP3K20 were set to split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816 Review for gene: MAP3K20 was set to GREEN Added comment: Split hand‑foot malformation with ectodermal dysplasia, craniosynostosis and sensorineural hearing loss (dominant): PMID 38451290 reports five families and PMID 39648035 reports one family with de novo heterozygous MAP3K20 variants, totalling six families. Split‑foot malformation‑mesoaxial polydactyly syndrome (recessive): PMID 26755636 describes two unrelated consanguineous families (five patients) with homozygous loss‑of‑function MAP3K20 variants. Sources: Literature |
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