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Prepair 1000+

Gene: LBR

Green List (high evidence)

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

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment on phenotypes: See detailed ClinGen curation these phenotypes have been split.
Created: 28 Nov 2024, 3:20 a.m. | Last Modified: 28 Nov 2024, 3:20 a.m.
Panel Version: 1.611

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

AR skeletal dysplasia. Dominant forms coexist.
HGNC approved symbol: LBR
Is the phenotype severe and early onset ,18yo? Y
>2 families reported
Created: 21 Nov 2024, 2:47 a.m. | Last Modified: 21 Nov 2024, 2:47 a.m.
Panel Version: 1.572

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Greenberg skeletal dysplasia MIM#215140; MONDO:0008974 & Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019

Publications

History Filter Activity

28 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia MIM#215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019 to Greenberg skeletal dysplasia MIM#215140; Regressive Spondylometaphyseal Dysplasia MIM#618019)

28 Nov 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia, 215140 (3) to Greenberg skeletal dysplasia MIM#215140; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly MIM#618019

28 Nov 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: LBR were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LBR was added gene: LBR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)