Rare multisystem ciliopathy disorders
Gene: NPHP1Comment on phenotypes: NephronophthisisCreated: 28 Aug 2016, 7:26 a.m.
Comment on list classification: Variants within this gene cause Nephronophthisis. Nephronophthisis is a feature of Senior-Loken syndrome, and of Joubert syndrome 4.Created: 28 Aug 2016, 7:26 a.m.
On current diagnostic panel and positive familes within patient cohort. Evidence from literature.Created: 15 Mar 2016, 3:20 p.m.
Phenotypes
Joubert syndrome; Nephronophthisis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Green List (High Evidence).
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
This gene has been classified as Green List (High Evidence).
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: UKGTN
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene NPHP1 were set to Nephronophthisis;Joubert syndrome 4;609583 Nephronophthisis 1, juvenile;256100 Senior-Loken syndrome-1, 266900
Phenotypes for NPHP1 were set to Nephronophthisis
Phenotypes for NPHP1 were set to
Publications for NPHP1 were set to 15138899; 15689444; 22982934
This gene has been classified as Amber List (Moderate Evidence).
NPHP1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
NPHP1 was created by ellenmcdonagh