XPNPEP3

X-prolyl aminopeptidase 3
OMIM: 613553, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green XPNPEP3 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159
Green XPNPEP3 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159
Green XPNPEP3 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.22 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159
Red XPNPEP3 in Mitochondrial disease Level 2: Metabolic disorders Version 0.927 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 MIM#613159
Red XPNPEP3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159
Red XPNPEP3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159
Red XPNPEP3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Amber XPNPEP3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Nephronophthisis-like nephropathy 1, 613159 (3)
Amber XPNPEP3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Amber Phenotypes Nephronophthisis-like nephropathy 1, 613159 (3)
Green XPNPEP3 in Aminoacidopathy Level 2: Metabolic disorders Version 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Nephronophthisis-like nephropathy 1 MONDO:0013163