LBR

lamin B receptor
OMIM: 600024, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green LBR in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.225	1 review	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green LBR in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM#215140
Green LBR in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green LBR in Mendeliome Version 1.2302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM# 215140
Green LBR in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.281 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Greenberg skeletal dysplasia, MIM# 215140
Green LBR in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy Level 2: Skeletal disorders Version 1.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Greenberg skeletal dysplasia, MIM#215140
Red LBR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Greenberg skeletal dysplasia, MIM#215140 3 Pelger-Huet anomaly, MIM#169400
Green LBR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Pelger-Huet anomaly with mild skeletal anomalies 618019 Greenberg skeletal dysplasia 215140 Pelger-Huet anomaly 169400
Green LBR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Greenberg skeletal dysplasia, 215140 (3)
Red LBR in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene BabySeq Category A gene Phenotypes Pelger-Huet anomaly Reynolds syndrome
Green LBR in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 1.48 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Greenberg skeletal dysplasia MIM#215140 Disorders of sterol biosynthesis
Green LBR in Fetal anomalies Version 1.313	1 review	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
Green LBR in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Greenberg skeletal dysplasia MIM#215140 Regressive Spondylometaphyseal Dysplasia MIM#618019)
Red LBR in BabyScreen+ newborn screening Level 2: Screening Version 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BabySeq Category A gene Expert Review Red Phenotypes Pelger-Huet anomaly Reynolds syndrome