Limb disordersGene: LBR
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, 1:06 p.m. | Last Modified: 15 Aug 2019, 1:06 p.m.
Panel Version: 1.57
Also found in patients with features resembling a ciliopathy (PMID: 29068549) , even though it isn’t a cilia protein (cell membrane protein in sterol synthesis). Genomics England clinical team advise to keep this gene on limb panel.
Created: 3 Dec 2018, 10:18 p.m.
Extreme limb shortening is a recognised phenotype of Greenberg skeletal dysplasia (MIM:215140), caused by homozygous variants in LBR. Note that heterozygous variants in LBR cause Pelger-Huet anomaly (169400). LBR is a confirmed DD-G2P gene for Greenberg skeletal dysplasia (MIM:215140) and over 3 cases of shortened limbs and/or polydactyly occuring with LBR homozygous variants (PMIDs:12618959, 12118250, 18382993, 21327084).
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polydactyly; Greenberg skeletal dysplasia, 215140; rhizomelia; mesomelia; post-axial polydactyly
Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rebecca Foulger: Extreme limb shortening is a r
Publications for gene: LBR were set to 18382993; 12618959; 21327084; 12118250
Gene: lbr has been classified as Green List (High Evidence).
Source Expert Review Green was added to LBR. Mode of inheritance for gene LBR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes mesomelia; Greenberg skeletal dysplasia, 215140; rhizomelia; post-axial polydactyly; Polydactyly for gene: LBR Publications for gene LBR were changed from to 18382993; 12618959; 21327084; 12118250 Rating Changed from Red List (low evidence) to Green List (high evidence)
LBR was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
LBR was created by Ellen McDonagh