| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | TRPM1 | Nicola Ragge reviewed gene: TRPM1: Rating: RED; Mode of pathogenicity: other - please provide details in the comments; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TRPM1 | Ivone Leong edited their review of gene: TRPM1: Changed phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TRPM1 | Ivone Leong reviewed gene: TRPM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Exudative vitreoretinopathy 5, 613310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TRPM1 |
Ivone Leong Source NHS GMS was added to TRPM1. Mode of inheritance for gene TRPM1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 for gene: TRPM1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | TRPM1 |
Ellen McDonagh gene: TRPM1 was added gene: TRPM1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TRPM1 was set to Phenotypes for gene: TRPM1 were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||