NPHP1

nephrocystin 1
OMIM: 607100, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red NPHP1 in Cholestasis Level 2: Gastroenterological disorders Version 1.5 Component of the following Super Panels: Liverome Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4 609583 Nephronophthisis 1, juvenile ,MIM# 256100 Senior-Loken syndrome-1 , MIM#266900
Green NPHP1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.94	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900
Green NPHP1 in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.31	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583
Green NPHP1 in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900 Tags SV/CNV
Green NPHP1 in Renal Ciliopathies and Nephronophthisis Level 2: Renal and urinary tract disorders Version 1.45 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 1, juvenile, MIM# 256100 Tags SV/CNV
Green NPHP1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.594	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NPHP1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900
Red NPHP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	1 review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green NPHP1 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.60 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4
Green NPHP1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green RetNet Expert Review Green Victorian Clinical Genetics Services
Green NPHP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Joubert syndrome 4, 609583 (3)
Green NPHP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Nephronophthisis
Green NPHP1 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4, MIM# 609583
Green NPHP1 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 1, juvenile MIM#256100 Joubert syndrome 4 MIM#609583 Senior-Loken syndrome-1 MIM#266900
Red NPHP1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900
Green NPHP1 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Nephronophthisis 1, juvenile MIM#256100 Joubert syndrome 4 MIM#609583 Senior-Loken syndrome-1 MIM#266900
Green ISCA-37405-Loss Region in Common deletion and duplication syndromes Version 0.137	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV