Skeletal dysplasia
Gene: LBR

LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 11 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Chondrodysplasia punctata gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic)
Created: 15 Aug 2019, 1:02 p.m. | Last Modified: 15 Aug 2019, 1:02 p.m.

Panel Version: 1.193

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LBR; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 29 Jul 2016, 10:07 a.m.

Comment on phenotypes: One variant reported in a patient with Reynolds syndrome 613471
Created: 29 Jul 2016, 10:07 a.m.

Created: 29 Jul 2016, 10:07 a.m.

Panel version: 0.1025

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400

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

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert list
UKGTN

Phenotypes

Pelger-Huet anomaly with mild skeletal anomalies 618019
Greenberg skeletal dysplasia 215140
Pelger-Huet anomaly 169400

OMIM

600024

Clinvar variants

Variants in LBR

Penetrance

Complete

Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: LBR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400 for gene: LBR

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LBR. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4