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  3. PKHD1
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Cholestasis

Gene: PKHD1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Periportal fibrosis is a key feature, cholestasis reported.
Created: 9 Aug 2020, 10:46 a.m. | Last Modified: 9 Aug 2020, 10:46 a.m.
Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

Publications

Created: 9 Aug 2020, 10:46 a.m.
Last Modified: 9 Aug 2020, 10:46 a.m.
Panel version: 0.151

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
OMIM
606702
Clinvar variants
Variants in PKHD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 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).

9 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PKHD1 were changed from to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200

9 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PKHD1 were set to

9 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PKHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKHD1 was added gene: PKHD1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PKHD1 was set to Unknown