Skeletal dysplasia
Gene: LBR
Chondrodysplasia punctata gp of SD - several cases; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 29 Jul 2016, 10:07 a.m.
Comment on phenotypes: One variant reported in a patient with Reynolds syndrome 613471Created: 29 Jul 2016, 10:07 a.m.
Tier 1Created: 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
Mode of inheritance for gene: LBR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400 for gene: LBR
Source NHS GMS was added to LBR. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for LBR were set to Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400
Mode of inheritance for LBR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
LBR was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
LBR was created by sleigh
LBR was added to Unexplained skeletal dysplasiapanel. Sources: