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| DDG2P v3.73 | CCDC47 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CCDC47. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | CCDC47 | Achchuthan Shanmugasundram commented on gene: CCDC47: The OMIM entry for this gene is OMIM:618260, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CCDC47 | Achchuthan Shanmugasundram reviewed gene: CCDC47: Rating: GREEN; Mode of pathogenicity: ; Publications: 30401460; Phenotypes: Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CCDC47 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC47. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | CCDC47 | Rebecca Foulger reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | CCDC47 |
Rebecca Foulger gene: CCDC47 was added gene: CCDC47 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC47 were set to 30401460 Phenotypes for gene: CCDC47 were set to Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay |
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