ClinGen Gene Validity CurationsGene: LBR
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.
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
LBR was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
This gene has been classified as Amber List (Moderate Evidence).
LBR was added to ClinGen Gene Validity Curationspanel. Sources: Other
LBR was created by ellenmcdonagh