1. Genes and Genomic Entities
  2. LMNA

LMNA

lamin A/C
OMIM: 150330, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels
Red LMNA in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.4

review Not set
Sources
  • Expert Review Red
  • Expert list
No list LMNA in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Monogenic Diabetes
Tags
  • curated_removed
Amber LMNA in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Green LMNA in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules
  • LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  • FPLD2
Green LMNA in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, familial partial, 2, 151660
Green LMNA in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Congenital fiber type disproportion myopathy
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Amber LMNA in Pigmentary skin disorders


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hutchinson-Gilford progeria, OMIM:176670
  • Hutchinson-Gilford progeria syndrome, MONDO:0008310
  • Mandibuloacral dysplasia, OMIM:248370
  • mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557
Tags
  • Q1_24_promote_green
  • Q1_24_NHS_review
Green LMNA in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
Green LMNA in Progressive cardiac conduction disease


Version 2.6
Latest signed off version: v2.2 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • London South GLH
    • Expert list
    Phenotypes
    • Laminopathy-associated AV conduction block
    • atrioventricular block (disease), MONDO:0000465
    Red LMNA in Hypertrophic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 4.7
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic
    Green LMNA in Arrhythmogenic right ventricular cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 3.9
    Latest signed off version: v3.5 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • London South GLH
    • UKGTN
    • Expert list
    Phenotypes
    • LMNA-related DCM
    Green LMNA in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.85

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • South West GLH
    • London South GLH
    • North West GLH
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
    • Lipodystrophy, familial partial, type 2 (151660)
    • Malouf syndrome (212112)
    • Mandibuloacral dysplasia (248370)
    • Cardiomyopathy, dilated, 1A (115200)
    • Muscular dystrophy, congenital (613205)
    • Hutchinson-Gilford progeria (176670)
    • Heart-hand syndrome, Slovenian type (610140)
    • Cardiomyopathy, dilated, 1A
    • Charcot-Marie-Tooth disease, type 2B1 (605588)
    • Restrictive dermopathy, lethal (275210)
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
    Green LMNA in Lipodystrophy - childhood onset


    Version 4.50
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Lipodystrophy, familial partial, 2, 151660
    Green LMNA in Monogenic diabetes


    Version 2.57
    Latest signed off version: v2.2 (25 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Lipodystrophy, familial partial, type 2, OMIM:151660
    • Severe insulin resistance, partial lipodystrophy and diabetes
    Green LMNA in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.23
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Congenital Muscular Dystrophy, LMNA-related (Dominant)
    • Emery-Dreifuss muscular dystrophy 2, AD, 181350
    Red LMNA in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.22
    Latest signed off version: v5.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Congenital Muscular Dystrophy, LMNA-related (Dominant)
    • Emery-Dreifuss muscular dystrophy 2, AD, 181350
    Green LMNA in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Congenital fiber type disproportion myopathy
    Green LMNA in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.32
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • UKGTN
    Phenotypes
    • Limb-Girdle Muscular Dystrophy, Recessive
    • Emery-Dreifuss muscular dystrophy 2, AD, 181350
    • Limb-girdle muscular dystrophy
    Green LMNA in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.56
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 2, 181350
    • Heart-hand syndrome, Slovenian type 610140
    • Charcot-Marie-Tooth disease, type 2B1 605588
    • Emery-Dreifuss muscular dystrophy 3, 616516
    • Cardiomyopathy, dilated, 1A 115200
    • Hutchinson-Gilford progeria 176670
    • Mandibuloacral dysplasia 248370
    • Lipodystrophy, familial partial, 2 151660
    • Restrictive dermopathy, lethal 275210
    • Foundation Trust) Mandibuloacral dysplasia 248370
    • 616516
    • Muscular dystrophy, congenital 613205
    • Muscular dystrophy, limb-girdle, type 1B 159001
    • Malouf syndrome 212112
    Green LMNA in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.22
    Latest signed off version: v2.8 (22 Mar 2023)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • Emory Genetics Laboratory
    • South West GLH
    • London South GLH
    • North West GLH
    Phenotypes
    • Muscular dystrophy, congenital (613205)
    • Malouf syndrome (212112)
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350)
    • Heart-hand syndrome, Slovenian type (610140)
    • Hutchinson-Gilford progeria (176670)
    • Cardiomyopathy, dilated, 1A (115200)
    • Restrictive dermopathy, lethal (275210)
    • Lipodystrophy, familial partial, type 2 (151660)
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516)
    • Charcot-Marie-Tooth disease, type 2B1 (605588)
    • Mandibuloacral dysplasia (248370)
    • Cardiomyopathy, dilated, 1A
    Green LMNA in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HUTCHINSON-GILFORD PROGERIA SYNDROME
    • MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED
    • HEART-HAND SYNDROME SLOVENIAN TYPE
    • MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
    • EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2
    • CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM
    • LETHAL TIGHT SKIN CONTRACTURE SYNDROME
    • CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1
    • FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2
    • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B
    • CARDIOMYOPATHY DILATED TYPE 1A
    Red LMNA in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    Green LMNA in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350
    • FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660
    • CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588
    • HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670
    Green LMNA in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cardiomyopathy, dilated, 1A, 115200
    • Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
    • Charcot Marie Tooth disease, type 2B1, 605588
    • Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
    • Emery Dreifuss muscular dystrophy 2, AD, 181350
    • Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
    • Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
    • Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
    • Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
    • Lipodystrophy, familial partial, 2, 151660
    • Lipodystrophy, familial partial, 2, 151660
    • Emery Dreifuss muscular dystrophy 3, AR, 181350
    • Emery Dreifuss muscular dystrophy 3, AR, 181350
    • Emery Dreifuss muscular dystrophy 2, AD, 181350
    • Cardiomyopathy, dilated, 1A, 115200
    Amber LMNA in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.108
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • RESTRICTIVE DERMOPATHY, LETHAL
    Red LMNA in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Emery-Dreifuss muscular dystrophy 2, AD, 181350
    • Cardiomyopathy, dilated, 1A, 115200
    • Lipodystrophy, familial partial, 2, 151660
    • Emery-Dreifuss muscular dystrophy 3, AR, 181350
    • Charcot-Marie-Tooth disease, type 2B1, 605588
    • Muscular dystrophy, congenital, 613205
    • Muscular dystrophy, limb-girdle, type 1B, 159001
    • Mandibuloacral dysplasia, 248370
    • Hutchinson-Gilford progeria, 176670
    • Restrictive dermopathy, lethal, 275210
    • Heart-hand syndrome, Slovenian type, 610140
    • Malouf syndrome, 212112
    Red LMNA in Proteinuric renal disease

    Level 3: Syndromes with prominent renal abnormalities
    Level 2: Renal and urinary tract disorders
    Version 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Partial lipodystrophy and FSGS
    Green LMNA in Paediatric or syndromic cardiomyopathy


    Version 3.46
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

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


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Emery Dreifuss muscular dystrophy 3, AR, 181350
    • Muscular dystrophy, congenital, 613205 Muscular dystrophy, limb girdle, type 1B, 159001
    • Restrictive dermopathy, lethal, 275210 Heart hand syndrome, Slovenian type, 610140 Malouf syndrome, 212112
    • Cardiomyopathy, dilated, 1A, 115200
    • Lipodystrophy, familial partial, 2, 151660
    • Emery Dreifuss muscular dystrophy 2, AD, 181350
    • Mandibuloacral dysplasia, 248370 Hutchinson Gilford progeria, 176670
    • Charcot Marie Tooth disease, type 2B1, 605588
    Green LMNA in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Malouf syndrome, 212112
    • 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
    • Muscular dystrophy, congenital, 613205
    • Restrictive dermopathy, lethal, 275210
    • Charcot-Marie-Tooth disease, type 2B1, 605588
    • Mandibuloacral dysplasia, 248370