| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | NDP | Nicola Ragge reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26130484, 29617172, 29321361, 17334993; Phenotypes: Exudative vitreoretinopathy 2, X-linked, Norrie disease, 305390, 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | NDP | Ivone Leong edited their review of gene: NDP: Changed phenotypes: Exudative vitreoretinopathy 2, X-linked, 305390, Norrie disease, 310600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | NDP | Ivone Leong reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26130484, 29617172, 29321361, 17334993; Phenotypes: Nephronophthisis 1, juvenile, Senior-Loken syndrome-1, Joubert syndrome 4, 256100, 266900, 609583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | NDP |
Ivone Leong Source NHS GMS was added to NDP. Source Expert Review Green was added to NDP. Mode of inheritance for gene NDP was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Norrie disease, 310600; Exudative vitreoretinopathy 2, X-linked, 305390 for gene: NDP Publications for gene NDP were changed from to 17334993; 26130484; 29321361; 29617172 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | NDP |
Ellen McDonagh gene: NDP was added gene: NDP was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NDP was set to Phenotypes for gene: NDP were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||