Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | NPHP3 | Nicola Ragge reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | NPHP3 | Ivone Leong edited their review of gene: NPHP3: Changed phenotypes: Nephronophthisis 3, Meckel syndrome 7, Renal-hepatic-pancreatic dysplasia 1, 604387, 267010, 208540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | NPHP3 | Ivone Leong reviewed gene: NPHP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Nephronophthisis 4, 606966, Senior-Loken syndrome, 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | NPHP3 |
Ivone Leong Source NHS GMS was added to NPHP3. Mode of inheritance for gene NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 604387; Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; 267010; 208540 for gene: NPHP3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | NPHP3 |
Ellen McDonagh gene: NPHP3 was added gene: NPHP3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NPHP3 was set to Phenotypes for gene: NPHP3 were set to Eye Disorders |