Polycystic liver disease interimGene: GANAB
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.
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: GANAB; 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.
Comment when marking as ready: GANAB is a disease causing gene of polycystic kidney disease, which is confirmed on OMIM. Some of the patients who have polycystic kidney disease also show a liver phenotype.
Created: 26 Nov 2018, 10:56 a.m.
Green gene in the Cystic kidney disease panel. There are 3 probands who have LOF mutations, 9 families identified with GANAB mutations (LOF) and functional studies proved GANAB as causative gene and 1 family with intronic variant that causes exon skipping. Therefore promoted from amber to green
Created: 12 Nov 2018, 1:55 p.m.
Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 (600666) to Polycystic kidney disease 3, OMIM:600666
Gene: ganab has been classified as Green List (High Evidence).
gene: GANAB was added gene: GANAB was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GANAB were set to 29243290; 27259053; 28862642 Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)