Severe Paediatric Disorders
Gene: LMNA
Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LMNA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cardiomyopathy, dilated, 1A, 115200 (3) | Charcot-Marie-Tooth disease, type 2B1, 605588 (3) | Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3) | Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3) | Heart-hand syndrome, Slovenian type, 610140 (3) | Hutchinson-Gilford progeria, 176670 (3) | Lipodystrophy, familial partial, type 2, 151660 (3) | Malouf syndrome, 212112 (3) | Mandibuloacral dysplasia, 248370 (3) | Muscular dystrophy, congenital, 613205 (3) | Restrictive dermopathy, lethal, 275210 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal recessiveCreated: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12
Mode of inheritance for gene LMNA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene LMNA were updated from to 30847515
Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Added phenotypes Hutchinson-Gilford progeria, 176670; Lipodystrophy, familial partial, type 2, 151660; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Heart-hand syndrome, Slovenian type, 610140; Cardiomyopathy, dilated, 1A, 115200; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Mandibuloacral dysplasia, 248370; Muscular dystrophy, congenital, 613205; Restrictive dermopathy, lethal, 275210; Charcot-Marie-Tooth disease, type 2B1, 605588; Malouf syndrome, 212112 for gene: LMNA
Added phenotypes Lipodystrophy, familial partial, type 2, 151660; Cardiomyopathy, dilated, 1A, 115200; Hutchinson-Gilford progeria, 176670; Restrictive dermopathy, lethal, 275210; Heart-hand syndrome, Slovenian type, 610140; Malouf syndrome, 212112; Mandibuloacral dysplasia, 248370; Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516; Charcot-Marie-Tooth disease, type 2B1, 605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350; Muscular dystrophy, congenital, 613205 for gene: LMNA
Source Next Generation Children Project was added to LMNA.
Source Expert Review Green was added to LMNA. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: LMNA was added gene: LMNA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: LMNA was set to