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Skeletal dysplasia v1.153 | MYCN | Eleanor Williams Added phenotypes Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280 for gene: MYCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | MYCN | Tracy Lester reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Feingold syndrome (Microcephaly-oculo-digito-esophageal-duodenal) 164280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | MYCN | Eleanor Williams reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | MYCN |
Eleanor Williams Source NHS GMS was added to MYCN. Rating Changed from Green List (high evidence) to Green List (high evidence) |