Skeletal dysplasia
Gene: LRP4EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Association of bi-allelic variants with myasthenia: Two unrelated families and a mouse model.
Mono-allelic variants: Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa. Individuals with bi-allelic variants more severely affected.
Single individual reported with bi-allelic variants and syndactyly.Created: 22 Nov 2021, 7:28 a.m. | Last Modified: 22 Nov 2021, 7:28 a.m.
Panel Version: 0.9824
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenic syndrome, congenital, 17, MIM# 616304; Sclerosteosis 2, MIM# 614305; Syndactyly
Publications
Daniel Flanagan (Victorian Clinical Genetics Services)
Biallelic variants in LRP4 have been shown to cause Cenani-Lenz syndrome, which is characterized by congenital limb malformations, renal abnormalities and craniofacial dysmorphism. More than 10 families reported.Created: 22 Nov 2021, 1:41 a.m. | Last Modified: 22 Nov 2021, 1:41 a.m.
Panel Version: 0.9782
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cenani-Lenz syndactyly syndrome (MIM#212780)
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Sclerosteosis 2 614305
- Cenani-Lenz syndactyly syndrome 212780
- OMIM
- 604270
- Clinvar variants
- Variants in LRP4
- Penetrance
- None
- Panels with this gene
-
- Hand and foot malformations
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Skeletal dysplasia
- Fetal anomalies
- Congenital Myasthenia
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRP4 was added gene: LRP4 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Expert Review Green,Radboud University Medical Center, Nijmegen,UKGTN,Expert,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: LRP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Sclerosteosis 2 614305; Cenani-Lenz syndactyly syndrome 212780