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Skeletal dysplasia v1.153 | LMNA | Eleanor Williams Added phenotypes Heart-hand syndrome, Slovenian type 610140; 616516; Hutchinson-Gilford progeria 176670; Mandibuloacral dysplasia 248370 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.147 | LMNA | Tracy Lester reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mandibuloacral dysplasia 248370, 616516, Heart-hand syndrome, Slovenian type 610140, Hutchinson-Gilford progeria 176670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.146 | LMNA | Eleanor Williams reviewed gene: LMNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal dysplasia v1.145 | LMNA |
Eleanor Williams Source NHS GMS was added to LMNA. Rating Changed from Green List (high evidence) to Green List (high evidence) |