Structural eye disease
Gene: NPHP1
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1, juvenile; Senior-Loken syndrome-1; Joubert syndrome 4; 256100; 266900; 609583
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1, juvenile; Senior-Loken syndrome-1; Joubert syndrome 4; 256100; 266900; 609583
Mode of pathogenicity
Other - please provide details in the comments
Source NHS GMS was added to NPHP1. Added phenotypes 609583; 256100; 266900; Joubert syndrome 4; Senior-Loken syndrome-1; Nephronophthisis 1, juvenile for gene: NPHP1
gene: NPHP1 was added gene: NPHP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP1 were set to 15689444; 15138899; 22982934 Phenotypes for gene: NPHP1 were set to Joubert syndrome, Nephronophthisis