GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: LMNA

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Osteolysis gp of SD - >3 cases. Also mutated in Cardiomyopathy, dilated, 1A 115200;Charcot-Marie-Tooth disease, type 2B1 605588;Lipodystrophy, familial partial, 2 151660;Malouf syndrome 212112;Muscular dystrophy, congenital 613205;Muscular dystrophy, limb-girdle, type 1B 159001;Restrictive dermopathy, lethal 275210; Emery-Dreifuss muscular dystrophy 2, 181350;Emery-Dreifuss muscular dystrophy 3,; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mandibuloacral dysplasia 248370; 616516; Heart-hand syndrome, Slovenian type 610140; Hutchinson-Gilford progeria 176670

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Heart-hand syndrome, Slovenian type 610140
616516
Hutchinson-Gilford progeria 176670
Mandibuloacral dysplasia 248370

OMIM

150330

Clinvar variants

Variants in LMNA

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: LMNA was added gene: LMNA was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMNA were set to Heart-hand syndrome, Slovenian type 610140; 616516; Hutchinson-Gilford progeria 176670; Mandibuloacral dysplasia 248370

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: LMNA