Research panel - Severe Paediatric Disorders
Gene: LBR

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LBR; Recommended initial gene rating: Green List (high evidence); Phenotypes: Greenberg skeletal dysplasia, 215140 (3) | Pelger-Huet anomaly, 169400 (3) | Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3) | ?Reynolds syndrome, 613471 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | ND | Autosomal dominant
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Pelger-Huet anomaly with mild skeletal anomalies, 618019
Pelger-Huet anomaly, 169400
?Reynolds syndrome, 613471
Greenberg skeletal dysplasia, 215140

OMIM

600024

Clinvar variants

Variants in LBR

Penetrance

None

Publications

30847515

Panels with this gene