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| Cystic kidney disease v1.41 | CEP83 | Eleanor Williams Classified gene: CEP83 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v1.41 | CEP83 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v1.41 | CEP83 | Eleanor Williams Gene: cep83 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v1.37 | CEP83 |
Anna de Burca gene: CEP83 was added gene: CEP83 was added to Cystic kidney disease. Sources: Expert list Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706 Phenotypes for gene: CEP83 were set to NEPHRONOPHTHISIS 18 Review for gene: CEP83 was set to GREEN Added comment: PMID: 24882706 reports ten variants found in biallelic form in seven families. All but one of the probands had nephronophthisis progressing to end stage renal failure; some of the affected individuals had additional features including intellectual disability and hydrocephalus. Sources: Expert list |
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