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  3. GANAB
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Ductal plate malformation

Gene: GANAB

Green List (high evidence)
GANAB (glucosidase II alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000089597
EnsemblGeneIds (GRCh37): ENSG00000089597
OMIM: 104160, Gene2Phenotype
GANAB is in 4 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

Created: 25 Nov 2018, 8:35 a.m.

Panel version: 0.35

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 12 Nov 2018, 1:55 p.m.

Panel version: 1.3

Details

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

History Filter Activity

12 Mar 2019, Gel status: 4

Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Added phenotypes Polycystic kidney disease 3 (600666) for gene: GANAB Publications for gene GANAB were changed from 28862642; 27259053; 29243290 to 29243290; 27259053; 28862642

8 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GANAB.

30 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: Green gene in the Cystic kidne

26 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

26 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GANAB were set to

26 Nov 2018, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: GANAB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

12 Nov 2018, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to GANAB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Nov 2018, Gel status: 2

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

Ivone Leong (Genomics England Curator)

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)