Cystic kidney disease (Version 4.24)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panel 'Cystic renal disease'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

18 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Daniel Gale (UCL)

Group: GeCIP domain
Workplace: Research lab
Miranda Durkie (Genetics)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Natalie Forrester (SWGLH - Bristol Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Yu Leng Phua (Icahn School of Medicine at Mount Sinai and ClinGen)

Group: Other
Workplace: Other diagnostic lab
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

75 Entities

75 reviewed, 34 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 75 Entitiess
Green Green List (high evidence)	ALG5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes Polycystic kidney disease 7, OMIM:620056 Tags
Green Green List (high evidence)	ALG8	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes cystic liver disease cystic kidney disease Polycystic liver disease 3 with or without kidney cysts, 617874 Tags
Green Green List (high evidence)	ALG9	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes cystic liver disease cystic kidney disease Gillessen-Kaesbach-Nishimura syndrome, 263210 Tags
Green Green List (high evidence)	ANKS6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 16, OMIM:615382 Tags
Green Green List (high evidence)	CEP164	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	CEP83	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes NEPHRONOPHTHISIS 18 Tags
Green Green List (high evidence)	COL4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Exophytic renal cysts raised creatinine kinase tortuous retinal vessels intracranial anuerysms haematuria Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 Tags
Green Green List (high evidence)	DNAJB11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes cystic kidney disease end stage renal failure non-enlarged kidney Polycystic kidney disease Tubulointerstitial kidney disease Tags
Green Green List (high evidence)	DZIP1L	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Polycystic kidney disease 5, OMIM:617610 polycystic kidney disease 5, MONDO_0033281 Tags
Green Green List (high evidence)	FLCN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Literature Phenotypes Birt-Hogg-Dube syndrome, OMIM:135150 renal cysts cutaneous fibrofolliculoma pneumothorax pulmonary cysts renal cell carcinoma renal oncocytoma Tags
Green Green List (high evidence)	GANAB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mild cystic kidney and liver disease Polycyctic kidney disease 3 Tags
Green Green List (high evidence)	GLA	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Green NHS GMS Phenotypes Fabry disease, OMIM:301500 Fabry disease, MONDO:0010526 Renal cyst, HP:0000107 renal parapelvic cysts Tags
Green Green List (high evidence)	HNF1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature UKGTN Phenotypes Renal cysts and diabetes syndrome Tags
Green Green List (high evidence)	IFT140	6 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Research Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 cystic kidney disease, MONDO:0002473 Tags
Green Green List (high evidence)	INVS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities 266900 609583 Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes RCAD syndrome utero-vaginal atresia Schizophrenia 614527 delayed development, intellectual disability Renal cysts and diabetes syndrome Autism Spectrum Disorder Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Chromosome 17q12 deletion syndrome global developmental delay Tags
Green Green List (high evidence)	MAPKBP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes NEPHRONOPHTHISIS 20 Tags
Green Green List (high evidence)	NPHP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	NPHP3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	NPHP4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	PAX2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Papillorenal syndrome, OMIM:120330 renal coloboma syndrome, MONDO:0007352 Tags
Green Green List (high evidence)	PKD1	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD) Tags
Green Green List (high evidence)	PKD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Kidney Disease, Autosomal Dominant Polycystic kidney disease 2, 613095 Autosomal Dominant Polycystic Kidney Disease Tags
Green Green List (high evidence)	PKHD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Autosomal Recessive Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	TMEM67	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	TSC1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Green Tags
Green Green List (high evidence)	TSC2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Tags
Green Green List (high evidence)	TTC21B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Tags watchlist_moi
Green Green List (high evidence)	TULP3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags
Green Green List (high evidence)	UMOD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000 Tags
Green Green List (high evidence)	VHL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Green Tags
Green Green List (high evidence)	WDR19	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 13, Senior-Loken Tags
Green Green List (high evidence)	XPNPEP3	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	CEP290	4 reviews 2 green	Not set	Sources Expert Expert Review Amber Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Amber Amber List (moderate evidence)	COL4A4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Cystic kidney disease, MONDO:0002473 Tags
Amber Amber List (moderate evidence)	NEK8	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber Phenotypes polycystic kidney disease, MONDO:0020642 ?Nephronophthisis 9, OMIM:613824 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PRKCSH	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber Phenotypes Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	SEC61A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Expert Review Amber Phenotypes glomerulocystic kidney disease interstitial nephritis chronic kidney disease cystic kidney disease Hyperuricemic nephropathy, familial juvenile, 4, 617056 Tags
Amber Amber List (moderate evidence)	SEC63	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber Phenotypes Polycystic liver disease 2 with or without kidney cysts, OMIM:617004 Tags Q3_23_NHS_review Q3_23_promote_green
Amber Amber List (moderate evidence)	ZNF423	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Amber Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red Red List (low evidence)	AHI1	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARL13B	2 reviews 1 red	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARL6	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS1	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS10	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS12	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS2	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS4	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS5	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS9	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	C5orf42	3 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags new-gene-name
Red Red List (low evidence)	CC2D2A	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CCDC28B	2 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CEP41	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	COL4A5	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Other Phenotypes cystic kidney disease MONDO:0002473 Tags
Red Red List (low evidence)	GLIS2	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	INPP5E	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	IQCB1	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	KIF7	1 review 1 red	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	MKS1	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	MUC1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Medullary cystic kidney disease 1, 174000 Tags
Red Red List (low evidence)	OFD1	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Expert Review Red Tags
Red Red List (low evidence)	RPGRIP1L	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	SDCCAG8	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TCTN1	2 reviews	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TCTN3	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM138	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM216	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM231	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM237	2 reviews 1 green	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TTC8	1 review 1 red	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	WDPCP	1 review	Not set	Sources Expert Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
No list No list	CLCN5	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes cystic kdiney disease cortical cysts medullary cysts nephrocalcinosis low molecular weight proteinuria hypercalciuria Tags

Major version comments

2023-03-22 15:24 Eleanor Williams (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:39 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this

2019-09-03 14:24 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.48) was signed off under NHS Genomic Medicine Service governance on (03/September/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

This panel has been designed for non-syndromic renal cystic disease including isolated nephronophthisis. If there are syndromic features or prenatal/infantile onset, another panel eg the ciliopathy panel should be used in addition to this panel.

Cystic kidney disease (Version 4.24)

18 reviewers

75 Entities

75 reviewed, 34 green

2 reviews

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4 reviews

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3 reviews

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4 reviews

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6 reviews

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2 reviews

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1 review

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1 review

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2 reviews

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3 reviews

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