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| DDG2P v3.12 | SLC4A11 | Achchuthan Shanmugasundram reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SLC4A11-related corneal endothelial dystrophy with or without deafness, OMIM:217700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC4A1 | Achchuthan Shanmugasundram reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: RENAL TUBULAR ACIDOSIS, DISTAL, AR, OMIM:611590, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OMIM:179800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC4A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SLC4A11 | Rebecca Foulger commented on gene: SLC4A11: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | SLC4A11 |
Rebecca Foulger Source Expert Review Green was added to SLC4A11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.77 | SLC4A1 |
Rebecca Foulger Source Expert Review Green was added to SLC4A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | SLC4A11 | Rebecca Foulger commented on gene: SLC4A11: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.76 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SLC4A11 | Rebecca Foulger commented on gene: SLC4A11: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.95 | SLC4A1 | Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | SLC4A11 |
Rebecca Foulger Source Expert Review Amber was added to SLC4A11. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.94 | SLC4A1 |
Rebecca Foulger Source Expert Review Amber was added to SLC4A1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | SLC4A11 | Rebecca Foulger reviewed gene: SLC4A11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SLC4A1 | Rebecca Foulger reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC4A11 |
Rebecca Foulger gene: SLC4A11 was added gene: SLC4A11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268 |
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| DDG2P v0.1 | SLC4A1 | Rebecca Foulger Added phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 for gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC4A1 |
Rebecca Foulger gene: SLC4A1 was added gene: SLC4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLC4A1 were set to RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 Mode of pathogenicity for gene: SLC4A1 was set to Other - please provide details in the comments |
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