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Skeletal dysplasia v1.153 TTC21B Eleanor Williams Added phenotypes Nephronophthisis 12, 613820; Asphyxiating Thoracic Dystrophy; SRTD4 for gene: TTC21B
Skeletal dysplasia v1.147 TTC21B Tracy Lester reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRTD4, Asphyxiating Thoracic Dystrophy, Nephronophthisis 12, 613820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.146 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal dysplasia v1.145 TTC21B Eleanor Williams Source NHS GMS was added to TTC21B.