Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Skeletal dysplasia v0.24 | EFL1 | Zornitza Stark Marked gene: EFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | EFL1 | Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | EFL1 | Tiong Tan Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.24 | EFL1 | Tiong Tan Added phenotypes 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 for gene: EFL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v0.23 | EFL1 |
Tiong Tan gene: EFL1 was added gene: EFL1 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EFL1 were set to 617941 SHWACHMAN-DIAMOND SYNDROME 2; SDS2 |