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Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association - perinatal onset. Characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys. Animal models present.

Notę heterozygous carriers reported to have liver cysts and nephrocalcinosis, gene-disease association considered MODERATE by ClinGen.
Created: 25 Sep 2024, 5:14 a.m. | Last Modified: 25 Sep 2024, 5:14 a.m.
Panel Version: 1.322

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: pkhd1 has been classified as Green List (High Evidence).

4 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200

4 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PKHD1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Polycystic kidney and hepatic disease, 263200 (3) for gene: PKHD1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PKHD1 was added gene: PKHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)