Ductal plate malformation
Gene: GANAB
Not aware of any exception to loss of functionCreated: 25 Nov 2018, 8:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polycystic liver; polycystic kidney
Publications
Mode of pathogenicity
Other
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 givenCreated: 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 greenCreated: 12 Nov 2018, 1:55 p.m.
Publications
Added phenotypes Polycystic kidney disease 3 (600666) for gene: GANAB Publications for gene GANAB were changed from 28862642; 27259053; 29243290 to 29243290; 27259053; 28862642
Source NHS GMS was added to GANAB.
Ivone Leong: Green gene in the Cystic kidne
Gene: ganab has been classified as Green List (High Evidence).
Publications for gene: GANAB were set to
Mode of inheritance for gene: GANAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source Expert Review Green was added to GANAB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: GANAB was added gene: GANAB was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666)