Activity
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8 actions
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| Structural eye disease v0.78 | TMEM216 | Ivone Leong Classified gene: TMEM216 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.78 | TMEM216 | Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on expert review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.78 | TMEM216 | Ivone Leong Gene: tmem216 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | TMEM216 | Nicola Ragge reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: 20512146, 30055837; Phenotypes: Joubert syndrome 2, Meckel syndrome 2, 608091, 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TMEM216 | Ivone Leong edited their review of gene: TMEM216: Changed phenotypes: Joubert syndrome 2, 608091, Meckel syndrome 2, 603194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TMEM216 | Ivone Leong reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: 20512146, 30055837; Phenotypes: Joubert syndrome 20, 614970, Meckel syndrome 11, 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TMEM216 |
Ivone Leong Source NHS GMS was added to TMEM216. Source Expert Review Amber was added to TMEM216. Added phenotypes Joubert syndrome 2, 608091; Meckel syndrome 2, 603194 for gene: TMEM216 Publications for gene TMEM216 were changed from 20036350; 22282472; 20512146 to 30055837; 20512146 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.2 | TMEM216 |
Ellen McDonagh gene: TMEM216 was added gene: TMEM216 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM216 were set to 20036350; 22282472; 20512146 Phenotypes for gene: TMEM216 were set to Joubert syndrome; Meckel-Gruber syndrome |
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