Ductal plate malformation
Gene: DNAJB11
Comment on list classification: Promoted from red to green. PMID: 29706351 showed 7 unrelated families with polycystic kidney disease with variants in DNAJB11 and 5 of these families have a polycystic liver phenotype.Created: 11 Jan 2019, 12:36 p.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: DNAJB11; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 8 Jan 2019, 9:38 a.m.
Phenotypes for gene: DNAJB11 were changed from to Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Gene: dnajb11 has been classified as Green List (High Evidence).
Mode of inheritance for gene: DNAJB11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNAJB11 were set to
gene: DNAJB11 was added gene: DNAJB11 was added to Polycystic liver disease. Sources: NHS GMS Mode of inheritance for gene: DNAJB11 was set to