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Limb disorders

Gene: LBR

Green List (high evidence)

LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 13 panels

2 reviews

Eleanor Williams (Genomics England Curator)

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.

Rebecca Foulger (Genomics England curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • mesomelia
  • Greenberg skeletal dysplasia, 215140
  • rhizomelia
  • post-axial polydactyly
  • Polydactyly
OMIM
600024
Clinvar variants
Variants in LBR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Extreme limb shortening is a r

3 Dec 2018, Gel status: 4

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: LBR were set to 18382993; 12618959; 21327084; 12118250

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: lbr has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

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)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LBR was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

LBR was created by Ellen McDonagh