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Skeletal dysplasia v1.153 | TCTN3 | Eleanor Williams Added phenotypes Orofaciodigital syndrome IV 258860; Joubert syndrome 18 614815 for gene: TCTN3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | TCTN3 | Tracy Lester reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: Joubert syndrome 18 614815, Orofaciodigital syndrome IV 258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | TCTN3 | Eleanor Williams reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | TCTN3 |
Eleanor Williams Source NHS GMS was added to TCTN3. Rating Changed from Green List (high evidence) to Green List (high evidence) |