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  3. LBR
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Miscellaneous Metabolic Disorders

Gene: LBR

Green List (high evidence)
LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Greenberg dysplasia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of sterol metabolism.
Sources: NHS GMS
Created: 5 Feb 2021, 3:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Greenberg skeletal dysplasia MIM#215140; Disorders of sterol biosynthesis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Feb 2021, 3:40 a.m.

Panel version: 0.198

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: LBR was added gene: LBR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LBR were set to 12618959; 27604308 Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia MIM#215140; Disorders of sterol biosynthesis Review for gene: LBR was set to GREEN gene: LBR was marked as current diagnostic