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  2. Polycystic liver disease
  3. PKHD1
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Polycystic liver disease

Gene: PKHD1

Green List (high evidence)
PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 13 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Emerging monoallelic association to mild liver cysts, clinically asymptomatic - Amber

Biallelic is green
Created: 15 Sep 2022, 6:04 a.m. | Last Modified: 15 Sep 2022, 6:04 a.m.
Panel Version: 1.4
Created: 15 Sep 2022, 6:04 a.m.
Last Modified: 15 Sep 2022, 6:04 a.m.
Panel version: 1.4

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 4 Aug 2020, 12:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 4 with or without hepatic disease (263200)

Publications

Created: 4 Aug 2020, 12:49 a.m.

Panel version: 0.13

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease (263200)
OMIM
606702
Clinvar variants
Variants in PKHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Sep 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: PKHD1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

4 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pkhd1 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: pkhd1 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: PKHD1 was added gene: PKHD1 was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKHD1 were set to 11135065; 30211211; 11919560; 28862642; 11337358 Phenotypes for gene: PKHD1 were set to Polycystic kidney disease 4 with or without hepatic disease (263200) Review for gene: PKHD1 was set to GREEN