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Severe Paediatric Disorders

Gene: LBR

Green List (high evidence)

LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 13 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

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
Panels with this gene