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  3. PKHD1
STRs in panel
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Cystic kidney disease

Gene: PKHD1

Green List (high evidence)
PKHD1 (PKHD1, fibrocystin/polyductin)
EnsemblGeneIds (GRCh38): ENSG00000170927
EnsemblGeneIds (GRCh37): ENSG00000170927
OMIM: 606702, Gene2Phenotype
PKHD1 is in 15 panels

1 review

Miranda Durkie (Genetics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
OMIM
606702
Clinvar variants
Variants in PKHD1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PKHD1 were changed from Autosomal Recessive Polycystic Kidney Disease; Polycystic Kidney Disease, Autosomal Recessive; Polycystic kidney and hepatic disease, 263200 to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200

15 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PKHD1 was added to Cystic kidney diseasepanel. Sources: Eligibility statement prior genetic testing

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKHD1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PKHD1 was added to Cystic kidney diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

15 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKHD1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PKHD1 was added to Cystic kidney diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

15 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKHD1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

PKHD1 was added to Cystic kidney diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

15 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PKHD1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PKHD1 was added to Cystic kidney diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert

15 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PKHD1 was added to Cystic kidney diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Expert