1. Panels
  2. Polycystic liver disease
  3. GANAB
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Polycystic liver disease

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple liver cysts are a feature of this condition.
Sources: Expert list
Created: 4 Aug 2020, 12:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic kidney disease 3 (600666)

Publications

Created: 4 Aug 2020, 12:44 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 3 (600666)
OMIM
104160
Clinvar variants
Variants in GANAB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GANAB was added gene: GANAB was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GANAB were set to 29243290; 27259053; 28862642 Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 (600666) Review for gene: GANAB was set to GREEN