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Skeletal dysplasia v1.153 | TMEM216 | Eleanor Williams Added phenotypes Meckel syndrome 2 603194; Joubert syndrome 2 608091 for gene: TMEM216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | TMEM216 | Tracy Lester reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 2 608091, Meckel syndrome 2 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | TMEM216 | Eleanor Williams reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | TMEM216 |
Eleanor Williams Source NHS GMS was added to TMEM216. Rating Changed from Green List (high evidence) to Green List (high evidence) |