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| Structural eye disease v3.65 | KIAA0586 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.; to: Comment on list classification: As reviewed by Hannah Knight, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.65 | KIAA0586 | Achchuthan Shanmugasundram Classified gene: KIAA0586 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.65 | KIAA0586 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.65 | KIAA0586 | Achchuthan Shanmugasundram Gene: kiaa0586 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.64 | KIAA0586 | Achchuthan Shanmugasundram Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23, OMIM:616490; Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.63 | KIAA0586 | Achchuthan Shanmugasundram Publications for gene: KIAA0586 were set to 30055837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.62 | KIAA0586 | Achchuthan Shanmugasundram Mode of inheritance for gene: KIAA0586 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.61 | KIAA0586 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: KIAA0586. Tag Q4_23_NHS_review tag was added to gene: KIAA0586. |
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| Structural eye disease v3.61 | KIAA0586 | Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 23, OMIM:616490, Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v3.58 | KIAA0586 | Hannah Knight reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: None; Publications: 30055837, 36580738, 28125082; Phenotypes: Joubert syndrome 23; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.81 | KIAA0586 | Ivone Leong reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: 30055837; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.80 | KIAA0586 |
Ivone Leong gene: KIAA0586 was added gene: KIAA0586 was added to Structural eye disease. Sources: Expert list,Expert Review Amber Mode of inheritance for gene: KIAA0586 was set to Publications for gene: KIAA0586 were set to 30055837 |
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