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Prepair 1000+

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

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Syndrome characterized mainly by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients. Kidney anomalies, including renal agenesis and hypoplasia, occur in over half of patients.
Created: 24 Dec 2024, 6:04 a.m. | Last Modified: 24 Dec 2024, 6:04 a.m.
Panel Version: 1.892

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cenani-Lenz syndactyly syndrome, MIM #212780

Publications

Created: 24 Dec 2024, 6:04 a.m.
Last Modified: 24 Dec 2024, 6:04 a.m.
Panel version: 1.892

History Filter Activity

27 Dec 2024, 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).

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780 (3) to Cenani-Lenz syndactyly syndrome, MIM #212780

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRP4 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)