LRP4

LDL receptor related protein 4
OMIM: 604270, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green LRP4 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.138 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Green LRP4 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cenani-Lenz syndactyly syndrome (MIM#212780) Myasthenic syndrome, congenital, 17, MIM# 616304 Sclerosteosis 2, MIM# 614305 Syndactyly
Red LRP4 in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Cenani-Lenz syndactyly syndrome, MIM# 212780 Sclerosteosis 2, MIM# 614305
Green LRP4 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	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
Green LRP4 in Congenital Myasthenia Level 2: Neurology and neurodevelopmental disorders Version 1.10 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Myasthenic syndrome, congenital, 17, 616304
Green LRP4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cenani-Lenz syndactyly syndrome, 212780 (3)
Green LRP4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cenani-Lenz syndactyly syndrome
Green LRP4 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.74 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Sclerosteosis 2 614305 Cenani-Lenz syndactyly syndrome 212780
Green LRP4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cenani-Lenz syndactyly syndrome (MIM#212780)
Green LRP4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cenani-Lenz syndactyly syndrome, 212780 (3)
Red LRP4 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene BeginNGS Phenotypes Myasthenic syndrome, congenital, 17 , MIM#616304