Skeletal Dysplasia_Fetal
Gene: LBR
LBR (lamin B receptor)
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000143815
EnsemblGeneIds (GRCh37): ENSG00000143815
OMIM: 600024, Gene2Phenotype
LBR is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Overlap with ATD in particular.
Sources: Expert listCreated: 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
- Unknown
- Sources
-
- Expert Review Green
- Expert list
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 600024
- Clinvar variants
- Variants in LBR
- Penetrance
- None
- Panels with this gene
-
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
- Ciliopathies
- Miscellaneous Metabolic Disorders
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Mendeliome
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LBR was added gene: LBR was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LBR was set to Unknown