Activity
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11 actions
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| DDG2P v6.8 | PDE6H | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating with stay green, pending updates from G2P.; to: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating should stay green, pending updates from G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.6 | PDE6H | Achchuthan Shanmugasundram Classified gene: PDE6H as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.6 | PDE6H | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Ronnie Wright, this gene does not fit into the scope of developmental disorders, particularly in the context of R27 Paediatric disorders clinical indication. However, the DDG2P panel is not curated at Genomics England and is updated only to reflect the latest knowledge from the Gene2Phenotype resource (https://www.ebi.ac.uk/gene2phenotype/). Hence, the rating with stay green, pending updates from G2P. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.6 | PDE6H | Achchuthan Shanmugasundram Gene: pde6h has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | PDE6H | Achchuthan Shanmugasundram edited their review of gene: PDE6H: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.5 | PDE6H | Ronnie Wright reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PDE6H | Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDE6H |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE6H. Publications for gene: PDE6H were updated from 15629837; 22901948 to 27472364; 22901948; 15629837 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PDE6H | Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDE6H |
Rebecca Foulger Added phenotypes RETINAL CONE DYSTROPHY 3 PDE6H 610024 for gene: PDE6H Publications for gene PDE6H were changed from to 15629837; 22901948 |
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| DDG2P v0.1 | PDE6H |
Rebecca Foulger gene: PDE6H was added gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA |
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