Lipodystrophy - childhood onset

Gene: LMNA

Green List (high evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 30 panels

4 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 5 Feb 2019, 2:21 p.m.

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

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

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Variant

4 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: lmna has been classified as Green List (High Evidence).

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: LMNA was added gene: LMNA was added to Lipodystrophy - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660