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| DDG2P v3.12 | TIMM8A | Achchuthan Shanmugasundram reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31903733; Phenotypes: JENSEN SYNDROME, OMIM:311150; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TIMM8A | Achchuthan Shanmugasundram Publications for gene: TIMM8A were updated from to 31903733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.131 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.77 | TIMM8A |
Rebecca Foulger Source Expert Review Green was added to TIMM8A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.76 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: 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 | TIMM8A | Rebecca Foulger commented on gene: TIMM8A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.94 | TIMM8A |
Rebecca Foulger Source Expert Review Amber was added to TIMM8A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| DDG2P v0.2 | TIMM8A | Rebecca Foulger reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TIMM8A | Rebecca Foulger Added phenotypes MOHR-TRANEBJAERG SYNDROME 304700 for gene: TIMM8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TIMM8A |
Rebecca Foulger gene: TIMM8A was added gene: TIMM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME 311150 |
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