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| DDG2P v3.12 | KIAA1109 | Achchuthan Shanmugasundram reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25558065, 29290337; Phenotypes: Brain atrophy, Dandy Walker and Contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | KIAA1109 |
Achchuthan Shanmugasundram Source Expert Review Green was added to KIAA1109. Mode of pathogenicity for gene KIAA1109 was changed from Other - please provide details in the comments to Other Publications for gene: KIAA1109 were updated from 25558065 to 29290337; 25558065 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v2.76 | KIAA1109 | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | KIAA1109 | Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.76 | KIAA1109 | Sarah Leigh commented on gene: KIAA1109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | KIAA1109 | Rebecca Foulger reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | KIAA1109 |
Rebecca Foulger gene: KIAA1109 was added gene: KIAA1109 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 25558065 Phenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures Mode of pathogenicity for gene: KIAA1109 was set to Other - please provide details in the comments |
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