| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.133 | IQCE | Zornitza Stark Marked gene: IQCE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.133 | IQCE | Zornitza Stark Gene: iqce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.133 | IQCE | Zornitza Stark Classified gene: IQCE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.133 | IQCE | Zornitza Stark Gene: iqce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.132 | IQCE |
Zornitza Stark gene: IQCE was added gene: IQCE was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IQCE were set to 38818822; 31549751; 28488682 Phenotypes for gene: IQCE were set to postaxial polydactyly type A, MONDO:0019673 Review for gene: IQCE was set to GREEN Added comment: Five families (ten individuals) reported with biallelic IQCE variants and postaxial polydactyly. Sources: Literature |
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