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| Cardiomyopathy_Paediatric v1.34 | NEK8 | Lucy Spencer Classified gene: NEK8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.34 | NEK8 | Lucy Spencer Gene: nek8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.33 | NEK8 |
Lucy Spencer gene: NEK8 was added gene: NEK8 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK8 were set to 26967905 Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2 MIM#615415 Review for gene: NEK8 was set to AMBER Added comment: PMID 26967905 in a cohort of 5 families with recessive NEK8 ciliopathies 2 patients had HCM and or cardiac septal hyperplasia as part of a broader syndrome. Sources: Literature |
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