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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Overlap with ATD in particular.
Sources: Expert list
Created: 24 May 2020, 11:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Greenberg skeletal dysplasia, MIM#215140

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Greenberg skeletal dysplasia, MIM#215140
OMIM
600024
Clinvar variants
Variants in LBR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LBR were changed from HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA to Greenberg skeletal dysplasia, MIM#215140

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LBR were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LBR were set to HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA