Polycystic liver disease interimGene: DNAJB11
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:26 a.m.
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 given
Created: 8 Jan 2019, 9:38 a.m.
Phenotypes for gene: DNAJB11 were changed from Polycystic kidney disease 6 with or without polycystic liver disease (618061) to Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061
Gene: dnajb11 has been classified as Green List (High Evidence).
gene: DNAJB11 was added gene: DNAJB11 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNAJB11 were set to 29706351 Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease (618061)