| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.15 | LMNA | chirag patel Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.15 | LMNA | chirag patel Gene: lmna has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.15 | LMNA | chirag patel Phenotypes for gene: LMNA were changed from Emery-Dreifuss muscular dystrophy 2, 181350; Heart-hand syndrome, Slovenian type 610140; Foundation Trust) Mandibuloacral dysplasia 248370; Muscular dystrophy, limb-girdle, type 1B 159001; Malouf syndrome 212112; 616516; Cardiomyopathy, dilated, 1A 115200; Lipodystrophy, familial partial, 2 151660; Emery-Dreifuss muscular dystrophy 3, 616516; Charcot-Marie-Tooth disease, type 2B1 605588; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205 to Mandibuloacral dysplasia with type A lipodystrophy, MONDO:0009557; Hutchinson-Gilford progeria syndrome, MONDO:0008310; heart-hand syndrome, Slovenian type, MONDO:0012417 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.14 | LMNA | chirag patel Publications for gene: LMNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.13 | LMNA | chirag patel reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 12075506, 14627682, 12788894, 17848409, 12714972, 12768443, 12702809, 18611980, 27723096; Phenotypes: Mandibuloacral dysplasia with type A lipodystrophy, MONDO:0009557, Hutchinson-Gilford progeria syndrome, MONDO:0008310, heart-hand syndrome, Slovenian type, MONDO:0012417; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.0 | LMNA | Gene migrated from ENSG00000160789 to ENSG00000160789 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2, 181350; Heart-hand syndrome, Slovenian type 610140; Foundation Trust) Mandibuloacral dysplasia 248370; Muscular dystrophy, limb-girdle, type 1B 159001; Malouf syndrome 212112; 616516; Cardiomyopathy, dilated, 1A 115200; Lipodystrophy, familial partial, 2 151660; Emery-Dreifuss muscular dystrophy 3, 616516; Charcot-Marie-Tooth disease, type 2B1 605588; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205 |
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