| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v1.44 | TMEM98 | Arina Puzriakova Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972 to Nanophthalmos 4, OMIM:615972; Nanophthalmos 4, MONDO:0014426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | TMEM98 | Nicola Ragge reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26392740, 24852644; Phenotypes: NNO4, Nanophthalmos 4, 615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TMEM98 | Ivone Leong reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 26392740, 24852644; Phenotypes: NNO4 Nanophthalmos 4, 615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.22 | TMEM98 | Ivone Leong Phenotypes for gene: TMEM98 were changed from NNO4 Nanophthalmos 4, 615972; NNO4; Nanophthalmos 4, 615972 to NNO4 Nanophthalmos 4, 615972 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TMEM98 |
Ivone Leong Source NHS GMS was added to TMEM98. Mode of pathogenicity for gene TMEM98 was changed from to Other - please provide details in the comments Added phenotypes NNO4 Nanophthalmos 4, 615972 for gene: TMEM98 Publications for gene TMEM98 were changed from 26392740; 24852644 to 24852644; 26392740 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | TMEM98 |
Ellen McDonagh gene: TMEM98 was added gene: TMEM98 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM98 were set to 26392740; 24852644 Phenotypes for gene: TMEM98 were set to NNO4; Nanophthalmos 4, 615972 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||