Polycystic liver disease interim

Gene: GANAB

Green List (high evidence)

GANAB (glucosidase II alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000089597
EnsemblGeneIds (GRCh37): ENSG00000089597
OMIM: 104160, Gene2Phenotype
GANAB is in 6 panels

2 reviews

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

Not aware of any exception to loss of function
Created: 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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease 3, OMIM:600666
OMIM
104160
Clinvar variants
Variants in GANAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GANAB were changed from Polycystic kidney disease 3 (600666) to Polycystic kidney disease 3, OMIM:600666

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ganab has been classified as Green List (High Evidence).

12 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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)