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| Cystic kidney disease v1.40 | MAPKBP1 | Eleanor Williams Classified gene: MAPKBP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v1.40 | MAPKBP1 | Eleanor Williams Added comment: Comment on list classification: Sufficient cases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v1.40 | MAPKBP1 | Eleanor Williams Gene: mapkbp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cystic kidney disease v1.38 | MAPKBP1 |
Anna de Burca gene: MAPKBP1 was added gene: MAPKBP1 was added to Cystic kidney disease. Sources: Expert list Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKBP1 were set to 28089251 Phenotypes for gene: MAPKBP1 were set to NEPHRONOPHTHISIS 20 Review for gene: MAPKBP1 was set to GREEN Added comment: PMID:28089251 reports seven variants present in biallelic form in 8 individuals from 5 families. All individuals had nephronophthisis with progression to ESRF in teens to 20s in 5/8 cases. Sources: Expert list |
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