Lipodystrophy_Lipoatrophy
Gene: LMNB2

LMNB2 (lamin B2)
EnsemblGeneIds (GRCh38): ENSG00000176619
EnsemblGeneIds (GRCh37): ENSG00000176619
OMIM: 150341, Gene2Phenotype
LMNB2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Three variants originally reported in association with lipodystrophy in 2006 in PMID16826530 are found at high frequency in gnomad: splice site variant IVS1AS-6C-T is present in 30 hets, p.Arg215Gln is present in 2920 hets and >30 homs, and p.Ala407Thr is present in 16 hets. These population frequencies are out of keeping for a rare monogenic disorder. Another individual reported in PMID 22768673 with a de novo missense.
Created: 18 Oct 2020, 1:35 a.m. | Last Modified: 18 Oct 2020, 1:35 a.m.

Panel Version: 0.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Lipodystrophy, partial, acquired, susceptibility to} 608709

Publications

Created: 18 Oct 2020, 1:35 a.m.
Last Modified: 18 Oct 2020, 1:35 a.m.
Panel version: 0.6

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

{Lipodystrophy, partial, acquired, susceptibility to} 608709

OMIM

150341

Clinvar variants

Variants in LMNB2

Penetrance

None

Publications

Panels with this gene