ClinGen Gene Validity Curations

Gene: LBR

Amber List (moderate evidence)

LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene by ClinGen in this instance is for Regressive spondylometaphyseal dysplasia ORPHA:448267, which is a very rare condition that is not listed in OMIM yet. The various ratings for this gene on other PanelApp panels is an indication of the level of evidence for the association of LBR with the relevant conditions.
Created: 14 Aug 2017, 9:37 a.m.

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as MODERATE by calculated classification and MODERATE by Expert curation (dated 12/01/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/5462.
Created: 20 Jun 2017, 3:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • ClinGen
  • Expert Review Amber
  • Other
Phenotypes
  • Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia
  • ORPHA448267
OMIM
600024
Clinvar variants
Variants in LBR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jun 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LBR was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

20 Jun 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LBR was added to ClinGen Gene Validity Curationspanel. Sources: Other

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LBR was created by ellenmcdonagh