LRP2

LDL receptor related protein 2
OMIM: 600073, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green LRP2 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.50	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM# 222448
Red LRP2 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.390	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Mendeliome Version 1.3098	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM# 222448
Green LRP2 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.229 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.558	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.222	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.294	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.230 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Donnai-Barrow syndrome MIM#222448
Green LRP2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Donnai-Barrow syndrome, 222448 (3)
Green LRP2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Donnai-Barrow syndrome
Green LRP2 in Fetal anomalies Version 1.413	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Donnai-Barrow syndrome, MIM# 222448
Green LRP2 in Prepair 1000+ Level 2: Screening Version 2.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Donnai-Barrow syndrome, MIM #222448
Red LRP2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.137	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Donnai-Barrow syndrome, MIM#222448
Green LRP2 in Prepair 500+ Level 2: Screening Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Donnai-Barrow syndrome, MIM #222448