Limb disorders

Gene: 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.

Green List (high evidence)

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

Phenotypes
Polydactyly; Greenberg skeletal dysplasia, 215140; rhizomelia; mesomelia; post-axial polydactyly

Publications

• 12618959
• 12118250
• 18382993
• 21327084