LMNA

lamin A/C
OMIM: 150330, Gene2Phenotype

29 panels

Panel Reviews Mode of inheritance Details
29 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 1.8

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 1.43

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 1.62

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 1.12

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 Neuromuscular disorders


Version 5.164
Latest signed off version: v5.43 (4 Mar 2020)

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

Green LMNA in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.61

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN

Green LMNA in Progressive cardiac conduction disease


Version 1.37
Latest signed off version: v1.5 (20 Aug 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • 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 - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.21
    Latest signed off version: v2.11 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.9 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 1.70

    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 2.15
    Latest signed off version: v2.4 (19 Feb 2020)

    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 2.42
    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 2.8
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    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 3.98
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • 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 2.28
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Congenital fiber type disproportion myopathy

    Green LMNA in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.18
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • 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 2.97
    Latest signed off version: v2.2 (13 Feb 2020)

    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 cardiomyopathy - adult and teen

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.25
    Latest signed off version: v1.6 (15 Oct 2020)

    Component of the following Super Panels:

  • Sudden cardiac death
  • 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 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.13
    Latest signed off version: v2.2 (13 Feb 2020)

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

    Green LMNA in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588
    • CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112
    • MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205
    • FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660
    • CARDIOMYOPATHY DILATED TYPE 1A 115200
    • HUTCHINSON-GILFORD PROGERIA SYNDROME 176670
    • LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210
    • HEART-HAND SYNDROME SLOVENIAN TYPE 610140
    • MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370
    • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001
    • EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350

    Green LMNA in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.385

    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 2.30
    Latest signed off version: v2.2 (4 Mar 2020)

    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

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1080
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 2.50
    Latest signed off version: v2.32 (16 Oct 2020)

    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 Cardiomyopathies - including childhood onset


    Version 1.42
    Latest signed off version: v1.4 (19 Feb 2020)

    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 NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    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 1.77

    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