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
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
Cenani-Lenz syndactyly syndrome, MIM# 212780
Variants in this GENE are reported as part of current diagnostic practice
Gene: lrp4 has been classified as Green List (High Evidence).
Publications for gene: LRP4 were set to
Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, MIM# 212780 to Cenani-Lenz syndactyly syndrome, 212780
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