PanelApp (stage)
  1. Genes and Genomic Entities
  2. LMNA

LMNA

lamin A/C
OMIM: 150330, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green LMNA in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.411

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, congenital, OMIM #613205

    Amber LMNA in Arrhythmogenic Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 0.68

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Arrhythmia_SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Cardiomyopathy, dilated, 1A, MIM# 115200
    • Arrhythmogenic right ventricular cardiomyopathy

    Green LMNA in Dilated Cardiomyopathy


    Level 2: Cardiovascular disorders
    Version 1.33

    Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1A, MIM# 115200

    Green LMNA in Incidentalome


    Version 0.301

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1A, MIM# 115200
    • Arrhythmogenic right ventricular cardiomyopathy
    • Lipodystrophy, familial partial, type 2, MIM# 151660
    • Emery-Dreifuss muscular dystrophy 2, MIM#181350
    • Mandibuloacral dysplasia 248370
    • Restrictive dermopathy, lethal 275210
    • Hutchinson-Gilford progeria 176670
    • Muscular dystrophy, congenital 613205
    Tags
    • cardiac

    Green LMNA in Lipodystrophy_Lipoatrophy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.17

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lipodystrophy, familial partial, type 2, MIM# 151660

    Green LMNA in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red LMNA in Proteinuria


    Level 2: Renal and urinary tract disorders
    Version 0.225

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Familial partial lipodystrophy
    • FSGS

    Green LMNA in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Laminopathy (MONDO#0021106), LMNA-related

    Green LMNA in Additional findings_Adult


    Level 2: Screening
    Version 0.166

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance
    Phenotypes
    • Cardiomyopathy, dilated, 1A, MIM# 115200

    Red LMNA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Expert Review Red
    • Genetic Health Queensland

    Green LMNA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Emory Genetics Laboratory
    Phenotypes
    • 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

    Amber LMNA in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2B1 , MIM#605588

    Green LMNA in Limb-Girdle Muscular Dystrophy and Distal Myopathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)

    Green LMNA in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.134

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
    • Severe insulin resistance, partial lipodystrophy and diabetes
    • FPLD2
    • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
    • Lipodystrophy, familial partial, 2, 151660

    Green LMNA in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Restrictive dermopathy, lethal, 275210 (3)

    Green LMNA in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital

    Green LMNA in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London South GLH
    • South West GLH
    • NHS GMS
    Phenotypes
    • Cardiomyopathy, dilated, 1A
    • Emery-Dreifuss muscular dystrophy 2, AD, 181350
    • Congenital Muscular Dystrophy, LMNA-related (Dominant)
    • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic

    Amber LMNA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • BabySeq Category B gene
    • BabySeq Category A gene
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 2
    • Charcot-Marie-Tooth disease
    • Dilated cardiomyopathy

    Amber LMNA in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • RESTRICTIVE DERMOPATHY, LETHAL

    Green LMNA in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green LMNA in Fetal anomalies


    Version 1.255

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Restrictive dermopathy, lethal, MIM# 275210
    • Mandibuloacral dysplasia, MIM# 248370

    Green LMNA in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Restrictive dermopathy, lethal, 275210 (3)

    Amber LMNA in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Amber
    • BabySeq Category B gene
    Phenotypes
    • Charcot-Marie-Tooth disease
    • Emery-Dreifuss muscular dystrophy 2
    • Dilated cardiomyopathy

    Green LMNA in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1A, MIM# 115200

    Green LMNA in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Restrictive dermopathy, lethal, 275210 (3)