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Skeletal dysplasia v1.153 | EFTUD2 |
Eleanor Williams Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 for gene: EFTUD2 Publications for gene EFTUD2 were changed from 19334086; 16760738; 22305528 to 16760738; 19334086; 22305528 |
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Skeletal dysplasia v1.147 | EFTUD2 | Tracy Lester reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19334086, 16760738, 22305528; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | EFTUD2 | Eleanor Williams reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | EFTUD2 |
Eleanor Williams Source NHS GMS was added to EFTUD2. Rating Changed from Green List (high evidence) to Green List (high evidence) |