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Fetal anomalies

Gene: LRP4

Green List (high evidence)

LRP4 (LDL receptor related protein 4)
EnsemblGeneIds (GRCh38): ENSG00000134569
EnsemblGeneIds (GRCh37): ENSG00000134569
OMIM: 604270, Gene2Phenotype
LRP4 is in 11 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

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: 14 Nov 2021, 10:10 p.m. | Last Modified: 14 Nov 2021, 10:10 p.m.
Panel Version: 0.426

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cenani-Lenz syndactyly syndrome (MIM#212780)

Publications

History Filter Activity

15 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp4 has been classified as Green List (High Evidence).

15 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP4 were changed from CENANI-LENZ SYNDACTYLY SYNDROME to Cenani-Lenz syndactyly syndrome (MIM#212780)

15 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRP4 were set to

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to CENANI-LENZ SYNDACTYLY SYNDROME