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Intellectual disability update Jan 2018

Gene: LBR

Red List (low evidence)
LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 11 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: In OMIM this gene is associated with ?Reynolds syndrome 613471, Greenberg skeletal dysplasia 215140, Pelger-Huet anomaly169400. 3 cases of mental retardation related to Pelger-Huet anomaly collated in Oosterwijk et al 2003 (PMID:14684694) Table 2 but two are mild and in at least one case no molecular genetics to confirm that is SNV in LBR.

LBR associated with HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA in Gene2Phenotype but ID not a listed phenotype.
Created: 7 Mar 2018, 1:44 p.m.
Created: 7 Mar 2018, 11:45 a.m.

Panel version: 0.392

Details

Sources
  • Expert Review Red
Phenotypes
  • ?Reynolds syndrome 613471
  • Greenberg skeletal dysplasia 215140
  • Pelger-Huet anomaly169400
  • HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
OMIM
600024
Clinvar variants
Variants in LBR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for LBR were set to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly169400; HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA

7 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for LBR were set to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly169400

7 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for LBR were set to 14684694; 12118250

7 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LBR was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

LBR was created by Ellen McDonagh