Description
This panel is an interim panel intended to be used for clinical indication 'R173 Polycystic liver disease' in the NHS Genomic Medicine Service. It is expected that this indication will move over to whole genome sequencing in the near future.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R173 Polycystic liver disease'. 

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.


The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/653/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (12/11/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

3 reviewers

  • Miranda Durkie (Genetics)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Bill Griffiths (Cambridge University Hospitals)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

20 Entities

20 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
ALG8
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic Liver Disease 3 (617874)
  • Congenital disorder of glycosylation, type Ih (608104)
Tags
Green Green List (high evidence)
DNAJB11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease (618061)
Tags
Green Green List (high evidence)
GANAB
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease 3 (600666)
Tags
Green Green List (high evidence)
LRP5
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts (617875)
Tags
Green Green List (high evidence)
PKD1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease 1 with or without polycystic liver disease (173900)
Tags
Green Green List (high evidence)
PKD2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease 2 with or without polycystic liver disease (613095)
Tags
Green Green List (high evidence)
PKHD1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease 4 with or without hepatic disease (263200)
Tags
Green Green List (high evidence)
PRKCSH
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Liver Disease 1 with or without kidney cysts (174050)
Tags
Green Green List (high evidence)
SEC63
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Liver Disease 2 with or without kidney cysts (617004)
Tags
Amber Amber List (moderate evidence)
ALG9
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ADPKD
  • PCLD
Tags
Amber Amber List (moderate evidence)
B9D1
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Meckel syndrome 9 (614209)
  • Joubert syndrome 27 (617120)
Tags
Amber Amber List (moderate evidence)
RTEL1
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5 (615190)
  • Dyskeratosiscongenita, autosomal dominant 4 (615190)
Tags
Amber Amber List (moderate evidence)
SEC61B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Association with polycystic liver disease 1 with or without renal cysts
Tags
Amber Amber List (moderate evidence)
STN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cerebroretinal microangiopathy with calcifications and cysts 2 (617341)
Tags
Amber Amber List (moderate evidence)
TERC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosiscongenita, autosomal dominant 1 (127550)
Tags
Amber Amber List (moderate evidence)
TERT
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • {Dyskeratosis congenita, autosomal dominant 2} (613989)
  • {Dyskeratosis congenita, autosomal recessive 4} (613989)
Tags
Red Red List (low evidence)
CC2D2A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • COACH syndrome (216360)
  • congenital hepatic fibrosis
  • Joubert syndrome 9 (612285)
  • Meckel syndrome 6 (612284)
Tags
Red Red List (low evidence)
DGUOK
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Portal hypertension, noncirrhotic (617068)
Tags
Red Red List (low evidence)
RPGRIP1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • COACH syndrome (216360)
  • Joubert syndrome 7 (611560)
  • Meckel syndrome 5 (611561)
Tags
Red Red List (low evidence)
TMEM67
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Joubert syndrome 6 (310688)
  • {Bardet-Biedl syndrome 14, modifier of} (615991)
  • Meckel syndrome 3 (607361)
  • Nephronophthisis 11 (613550)
  • congenital hepatic fibrosis
  • COACH syndrome (216360)
Tags

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