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| DDG2P v3.12 | HDAC8 | Achchuthan Shanmugasundram reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29279609, 25102094, 29991052, 22885700, 29519750, 26671848, 24403048; Phenotypes: CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR, Cornelia de Lange Syndrome HDAC8 X-linked dominant; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HDAC8 | Achchuthan Shanmugasundram Publications for gene: HDAC8 were updated from 22885700 to 29279609; 25102094; 29991052; 22885700; 29519750; 26671848; 24403048 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.44 | HDAC8 | Rebecca Foulger commented on gene: HDAC8: DDG2P updated 09/01/2019. Ratings confirmed for both 'CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR' and 'Cornelia de Lange Syndrome HDAC8 X-linked dominant'. MOP listed as 'loss of function' for both phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.44 | HDAC8 | Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotypes to reflect DDG2P update from 09/01/2019: 'WILSON-TURNER SYNDROME 309585' phenotype was removed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.44 | HDAC8 | Rebecca Foulger Phenotypes for gene: HDAC8 were changed from WILSON-TURNER SYNDROME 309585; CORNELIA DE LANGE-LIKE SYNDROME to CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR; Cornelia de Lange Syndrome HDAC8 X-linked dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | HDAC8 | Rebecca Foulger reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HDAC8 | Rebecca Foulger Added phenotypes WILSON-TURNER SYNDROME 309585 for gene: HDAC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HDAC8 | Rebecca Foulger Added phenotypes CORNELIA DE LANGE-LIKE SYNDROME for gene: HDAC8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HDAC8 |
Rebecca Foulger gene: HDAC8 was added gene: HDAC8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HDAC8 were set to 22885700 Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME |
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