Insulin resistance (including lipodystrophy)

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Familial Partial Lipodystrophy Type 2, Dilated Cardiomyopathy, Charcot-Marie-Tooth disease, Emery-Dreifuss muscular dystrophy, Hutchinson-Gilford progeria, Malouf syndrome, Mandibuloacral dysplasia, limb-girdle muscular dystrophy, Restrictive dermopathy, overlap syndromes

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in Lipodystrophy, familial partial, 2, 151660
Created: 11 Aug 2016, 9:58 a.m.
Comment on phenotypes: Variants also reported in Emery-Dreifuss muscular dystrophy 2, AD, 181350; Cardiomyopathy, dilated, 1A, 115200; 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
Created: 11 Aug 2016, 9:57 a.m.

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for LMNA were set to Lipodystrophy, familial partial, 2, 151660

11 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LMNA was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen