LMNA

28 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 28 panels
Red LMNA in Left Ventricular Noncompaction Cardiomyopathy Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 1.5	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 1.12	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 1.71	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 1.68	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 1.18	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 Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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
Green LMNA in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green UKGTN
Green LMNA in Progressive cardiac conduction disease Level 2: Cardiology Version 2.13 Latest signed off version: v2.10 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 2: Cardiology Version 3.15 Latest signed off version: v3.13 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 1.97	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 Level 2: Endocrinology Version 4.67 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 Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	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 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 9.24 Latest signed off version: v9.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 2: Neurology Version 6.45 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Neurology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) 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 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Cardiology Version 3.11 Latest signed off version: v3.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	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 Level 2: Fetal (including NIPD) Version 6.138 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias
Green LMNA in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 1.506	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 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes RESTRICTIVE DERMOPATHY, LETHAL
Amber LMNA in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	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 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Phenotypes Partial lipodystrophy and FSGS
Green LMNA in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.96 Latest signed off version: v7.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	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

LMNA

28 panels

Red LMNA in Left Ventricular Noncompaction Cardiomyopathy

Sources

No list LMNA in Multi-organ autoimmune diabetes

Sources

Phenotypes

Tags

Amber LMNA in Primary ovarian insufficiency

Sources

Green LMNA in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Sources

Phenotypes

Green LMNA in Insulin resistance (including lipodystrophy)

Sources

Phenotypes

Green LMNA in Pigmentary skin disorders

Sources

Phenotypes

Green LMNA in Familial diabetes

Sources

Green LMNA in Progressive cardiac conduction disease

Sources

Phenotypes

Red LMNA in Hypertrophic cardiomyopathy

Sources

Phenotypes

Green LMNA in Arrhythmogenic right ventricular cardiomyopathy

Sources

Phenotypes

Green LMNA in Dilated Cardiomyopathy and conduction defects

Sources

Phenotypes

Green LMNA in Lipodystrophy - childhood onset

Sources

Phenotypes

Green LMNA in Monogenic diabetes

Sources

Phenotypes

Green LMNA in Congenital muscular dystrophy

Sources

Phenotypes

Red LMNA in Arthrogryposis

Sources

Phenotypes

Green LMNA in Congenital myopathy

Sources

Phenotypes

Green LMNA in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Sources

Phenotypes

Green LMNA in Skeletal dysplasia

Sources

Phenotypes

Green LMNA in Dilated and arrhythmogenic cardiomyopathy

Sources

Phenotypes

Green LMNA in Fetal anomalies

Sources

Phenotypes

Red LMNA in Osteogenesis imperfecta

Sources

Phenotypes

Green LMNA in DDG2P

Sources

Phenotypes

Green LMNA in Hereditary neuropathy

Sources

Phenotypes

Amber LMNA in Clefting

Sources

Phenotypes

Amber LMNA in Intellectual disability

Sources

Phenotypes

Red LMNA in Proteinuric renal disease

Sources

Phenotypes

Green LMNA in Paediatric or syndromic cardiomyopathy

Sources