Genomics England
GMS Panels
Panels
Genes and Entities

LBR

lamin B receptor
OMIM: 600024
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 6.14
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Reynolds syndrome 613471, Greenberg skeletal dysplasia 215140, Pelger-Huet anomaly 169400, Pelger-Huet anomaly with mild skeletal anomalies 618019
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mesomelia, Greenberg skeletal dysplasia, 215140, rhizomelia, post-axial polydactyly, Polydactyly
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Skeletal Ciliopathies, Greenberg skeletal dysplasia, 215140
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pelger-Huet anomaly with mild skeletal anomalies 618019, Greenberg skeletal dysplasia 215140, Pelger-Huet anomaly 169400