BRIDGE_SPEED_NEURO_20170705
Gene: LMNA

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_UKGTN_v12 . Main mutation mechanism : Loss of function; Uncertain; Activating
Created: 28 Jul 2017, 9:34 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

25529582
Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 4:41 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Emery-Dreifuss muscular dystrophy 2, AD, 181350
Cardiomyopathy, dilated, 1A, 115200
Lipodystrophy, familial partial, 2, 151660
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

OMIM

150330

Clinvar variants

Variants in LMNA

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

LMNA was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created