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  2. Polycystic liver disease
  3. PKD1
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Polycystic liver disease

Gene: PKD1

Green List (high evidence)
PKD1 (polycystin 1, transient receptor potential channel interacting)
EnsemblGeneIds (GRCh38): ENSG00000008710
EnsemblGeneIds (GRCh37): ENSG00000008710
OMIM: 601313, Gene2Phenotype
PKD1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 4 Aug 2020, 12:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)

Publications

Created: 4 Aug 2020, 12:47 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
OMIM
601313
Clinvar variants
Variants in PKD1
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: pkd1 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: pkd1 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: PKD1 was added gene: PKD1 was added to Polycystic liver disease. Sources: Expert list Mode of inheritance for gene: PKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKD1 were set to 8554072; 3178424; 9211343 Phenotypes for gene: PKD1 were set to Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) Review for gene: PKD1 was set to GREEN