LMNA

lamin A/C
OMIM: 150330, Gene2Phenotype

31 panels

Panel Reviews Mode of inheritance Details
31 panels

Red LMNA in Left Ventricular Noncompaction Cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.3

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

Amber LMNA in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.17

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 1.59

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 1.11

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 5.9

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 1.38

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

Green LMNA in Progressive cardiac conduction disease


Version 1.1

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

Red LMNA in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.1

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 2.2

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 1.65

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 2.0

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 2.1

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

Green LMNA in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.0

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 3.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • 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 2.0

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 2.3

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 2.0

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 1.1

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 1.0

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 2.0

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

Green LMNA in DDG2P


Version 2.0

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 1.368

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 2.0

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

Amber LMNA in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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 2.0

review Not set
Sources
  • NHS GMS
Phenotypes
  • Partial lipodystrophy and FSGS

Green LMNA in Cardiomyopathies - including childhood onset


Version 1.3

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 1.0

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

Red LMNA in Kidneyome_SuperPanel_KidGen_VCGS


Level 2: Renal and urinary tract disorders
Version 0.6

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

Red LMNA in Proteinuria_VCGS_KidGen


Level 2: Renal and urinary tract disorders
Version 0.3

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

Red LMNA in Renal glomerular disease_SuperPanel_VCGS_KidGen


Level 2: Renal and urinary tract disorders
Version 0.3

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