CAKUT

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

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by expert reviewer. LRP4 is associated with a relevant phenotype in OMIM and Gene2Phenotype, with Gene2Phenotype listing renal agenesis and renal hypoplasia as a phenotype. There are >3 unrelated cases of patients with LRP4 variants who have renal hypoplasia or renal agenesis as a feature. There is also a mouse model. Therefore there is enough evidence to support a gene-disease association for this gene to be Green.
Created: 11 May 2020, 11:41 a.m. | Last Modified: 11 May 2020, 11:41 a.m.
Panel Version: 1.101

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Renal hypoplasia/dysplasia is a recognised feature of this syndrome, and is a feature of the mouse model.
Sources: Expert list
Created: 16 Jan 2020, 4:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cenani-Lenz syndactyly syndrome, MIM# 212780

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cenani-Lenz syndactyly syndrome, 212780
OMIM
604270
Clinvar variants
Variants in LRP4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

11 May 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: LRP4 were set to

11 May 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

16 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: LRP4 was added gene: LRP4 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, MIM# 212780 Review for gene: LRP4 was set to GREEN gene: LRP4 was marked as current diagnostic