Pigmentary skin disorders
Gene: LMNAEnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 4 Dec 2024, 11:17 a.m. | Last Modified: 4 Dec 2024, 11:17 a.m.
Panel Version: 3.14
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
LMNA variants have been associated with various conditions, including Hutchinson-Gilford progeria (OMIM:176670) and Mandibuloacral dysplasia (OMIM:248370). Skin mottling has been reported in both of these conditions, and hyper and hypopigmentation is a feature of Mandibuloacral dysplasia (OMIM:248370). Numerous LMNA variants have been reported in these conditions.Created: 5 Feb 2024, 3:03 p.m. | Last Modified: 5 Feb 2024, 3:03 p.m.
Panel Version: 3.10
Comment on mode of inheritance: Hutchinson-Gilford progeria, OMIM:176670 is monoallelic, Mandibuloacral dysplasia, OMIM:248370 is biallelicCreated: 5 Feb 2024, 2:36 p.m. | Last Modified: 5 Feb 2024, 2:36 p.m.
Panel Version: 3.9
Tom Cullup (Great Ormond Street Hospital)
LMNA requested to be added to pigmentary disorders panel by Prof Kinsler, due to pigmentary lesions being an early sign of LMNA-progeria (AD).
Mottled pigmentation also a feature of MADA (AR).
Sources: Expert listCreated: 11 Jan 2024, 4:57 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hutchinson-Gilford progeria, OMIM:176670
- Hutchinson-Gilford progeria syndrome, MONDO:0008310
- Mandibuloacral dysplasia, OMIM:248370
- mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557
- OMIM
- 150330
- Clinvar variants
- Variants in LMNA
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Progressive cardiac conduction disease
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Proteinuric renal disease
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Arrhythmogenic right ventricular cardiomyopathy
- Congenital muscular dystrophy
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Primary ovarian insufficiency
- Insulin resistance (including lipodystrophy)
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Familial diabetes
- Clefting
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_24_promote_green was removed from gene: LMNA. Tag Q1_24_NHS_review was removed from gene: LMNA.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to LMNA. Source NHS GMS was added to LMNA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_24_promote_green tag was added to gene: LMNA. Tag Q1_24_NHS_review tag was added to gene: LMNA.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: lmna has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: LMNA were changed from Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA) to Hutchinson-Gilford progeria, OMIM:176670; Hutchinson-Gilford progeria syndrome, MONDO:0008310; Mandibuloacral dysplasia, OMIM:248370; mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Tom Cullup (Great Ormond Street Hospital)gene: LMNA was added gene: LMNA was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409 Phenotypes for gene: LMNA were set to Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA) Penetrance for gene: LMNA were set to Complete Mode of pathogenicity for gene: LMNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: LMNA was set to GREEN