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| DDG2P v3.12 | CISD2 | Achchuthan Shanmugasundram reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28335035, 25056293, 17846994, 10739754; Phenotypes: WOLFRAM SYNDROME TYPE 2, OMIM:604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CISD2 | Achchuthan Shanmugasundram Publications for gene: CISD2 were updated from to 28335035; 25056293; 17846994; 10739754 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | CISD2 | Rebecca Foulger commented on gene: CISD2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for WOLFRAM SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | CISD2 |
Rebecca Foulger Source Expert Review Green was added to CISD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | CISD2 | Rebecca Foulger commented on gene: CISD2: 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 | CISD2 | Rebecca Foulger commented on gene: CISD2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for WOLFRAM SYNDROME TYPE 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | CISD2 |
Rebecca Foulger Source Expert Review Amber was added to CISD2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | CISD2 | Rebecca Foulger reviewed gene: CISD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CISD2 |
Rebecca Foulger gene: CISD2 was added gene: CISD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2 604928 |
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