Renal ciliopathies (Version 3.5)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panels 'Rare multisystem ciliopathy Super panel' (panel id 728), 'Paediatric disorders' (panel id 486), and Cystic renal disease (panel id 487); 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.

This panel was originally developed as part of the ‘Rare multisystem ciliopathy disorders’ panel (https://panelapp.genomicsengland.co.uk/panels/150/) 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

20 reviewers

Ellen McDonagh (Genomics England Curator)

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

Group: GeCIP domain
Workplace: NHS clinical service
Penny Clouston (Oxford)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Beth Hoskins (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Andrea Nemeth (University of Oxford)

Group: GeCIP domain
Workplace: NHS clinical service
Richard Scott (Genomics England Curator)

Group: Other
Workplace: Other
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Olivia Niblock (Genomics England Curator)

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

Group: Other
Workplace: Other
Gabrielle Wheway (University of the West of England)

Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

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

Group: Other
Workplace: Other
chirag patel (Genetic Health Queensland)

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

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

Group: Other
Workplace: Other clinical service
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

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

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

Group: Other
Workplace: Other

103 Entities

101 reviewed, 77 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 103 Entitiess
Green Green List (high evidence)	AHI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 3 Joubert syndrome Joubert syndrome-3. Tags
Green Green List (high evidence)	ALMS1	6 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet UKGTN Phenotypes Bardet-Biedl Syndrome Alstrom syndrome, OMIM:203800 Tags
Green Green List (high evidence)	ANKS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Nephronophthisis 16, OMIM:615382 Tags
Green Green List (high evidence)	ARL13B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARL6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes {Bardet Biedl syndrome 1, modifier of} Bardet-Biedl Syndrome 268000 Bardet Biedl syndrome 3 Tags
Green Green List (high evidence)	B9D2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 10 Tags
Green Green List (high evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 12 Tags
Green Green List (high evidence)	BBS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 2 Tags
Green Green List (high evidence)	BBS4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 4 Tags
Green Green List (high evidence)	BBS5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 5 Tags
Green Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 7 Tags
Green Green List (high evidence)	BBS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 9 Tags
Green Green List (high evidence)	C5orf42	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Oral-facial-digital syndrome type VI Joubert syndrome 17 Tags new-gene-name
Green Green List (high evidence)	CC2D2A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome 9 COACH syndrome Joubert syndrome with oculorenal defect Meckel syndrome 6 Meckel syndrome Tags
Green Green List (high evidence)	CENPF	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CEP104	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 25, 616781 Joubert syndrome 25 Tags
Green Green List (high evidence)	CEP164	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ciliopathies Nephronophthisis 15 Senior-Loken syndrome Nephronophthisis 15, 614845 Tags
Green Green List (high evidence)	CEP290	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes 610189 Meckel syndrome 4 Senior-Loken syndrome 611755 Joubert syndrome 5 Joubert syndrome with oculorenal defect 610188 Senior-Loken syndrome 6 611134 Meckel syndrome Tags
Green Green List (high evidence)	CEP41	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CEP83	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 18 615862 Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ventriculomegaly with cystic kidney disease 219730 Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	DDX59	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green Green List (high evidence)	DHCR7	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome, OMIM:270400 Tags
Green Green List (high evidence)	DLG5	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yuksel-Vogel-Bauser syndrome, OMIM:620703 Tags
Green Green List (high evidence)	DYNC2H1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	HNF1B	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Green Green List (high evidence)	HYLS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome Hydrolethalus syndrome, 236680 Tags
Green Green List (high evidence)	ICK	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name watchlist
Green Green List (high evidence)	IFT122	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia Cranioectodermal dysplasia 1, 218330 Tags
Green Green List (high evidence)	IFT140	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green 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)	IFT172	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 Tags
Green Green List (high evidence)	IFT27	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 19, OMIM:615996 Tags
Green Green List (high evidence)	IFT43	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 3, 614099 Sensenbrenner syndrome Short-rib thoracic dysplasia 18 with polydactyly, 617866 Tags
Green Green List (high evidence)	INPP5E	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Joubert syndrome 1 Tags
Green Green List (high evidence)	INVS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Senior-Loken syndrome Nephronophthisis 2, infantile, 602088 Nephronophthisis Tags
Green Green List (high evidence)	IQCB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Senior-Loken syndrome 5, 609254 Senior-Loken syndrome 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 609583 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 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 Schizophrenia Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females delayed development, intellectual disability 614527 RCAD syndrome utero-vaginal atresia Chromosome 17q12 deletion syndrome Autism Spectrum Disorder global developmental delay Renal cysts and diabetes syndrome Tags
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly Tags
Green Green List (high evidence)	KIAA0753	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome Short-rib skeletal dysplasia Tags
Green Green List (high evidence)	KIF7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green Green List (high evidence)	LZTFL1	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green Green List (high evidence)	MAPKBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephronophthisis 20 617271 Tags
Green Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 6 236700 Tags
Green Green List (high evidence)	MKS1	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes occipital encephalocele Joubert syndrome Bardet-Biedl syndrome Joubert syndrome 28 249000 polydactyly polycystic kidneys Meckel-Gruber syndrome Meckel syndrome renal fibrosis Tags
Green Green List (high evidence)	NEK8	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal-hepatic-pancreatic dysplasia ?Renal-hepatic-pancreatic dysplasia 2, 615415 Nephronophthisis ?Nephronophthisis 9, 613824 Tags
Green Green List (high evidence)	NPHP1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Joubert syndrome 4 Senior-Loken syndrome 256100 Senior-Loken syndrome-1, 266900 609583 Nephronophthisis 1, juvenile Nephronophthisis Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Renal-hepatic-pancreatic dysplasia Senior-Loken syndrome Nephronophthisis 3, 604387 Meckel syndrome 7, 267010 Renal-hepatic-pancreatic dysplasia 1, 208540 Nephronophthisis Tags
Green Green List (high evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Senior-Loken syndrome Nephronophthisis Senior-Loken syndrome 4, 606996 Nephronophthisis 4, 606966 Tags
Green Green List (high evidence)	OFD1	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 Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 10 X-linked Joubert syndrome Orofaciodigital syndrome I Tags
Green Green List (high evidence)	PKD1	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list 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	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease 2, 613095 Tags
Green Green List (high evidence)	PKHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	PMM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	RPGRIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome 7 Meckel syndrome 5 Joubert syndrome Meckel syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	SDCCAG8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Phenotypes SENIOR-LOKEN SYNDROME Bardet-Biedl Syndrome 613615 Senior-Loken syndrome Tags
Green Green List (high evidence)	TCTN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Joubert syndrome Tags
Green Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TCTN3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Other Phenotypes Joubert syndrome Orofaciodigital syndrome IV Joubert syndrome 18 Meckel-Gruber Mohr-Majewski syndrome Tags
Green Green List (high evidence)	TMEM107	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Meckel syndrome 13 617562 ?Joubert syndrome 29 617562 Orofaciodigital syndrome XVI 617563 Tags
Green Green List (high evidence)	TMEM138	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16 Tags
Green Green List (high evidence)	TMEM216	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome: Meckel-Gruber syndrome Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 2 Tags
Green Green List (high evidence)	TMEM231	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome Joubert syndrome 20 Joubert syndrome with oculorenal defect Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Tags
Green Green List (high evidence)	TMEM237	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome 14 Tags
Green Green List (high evidence)	TMEM67	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Orphanet Other Phenotypes Joubert syndrome nephronophthisis COACH syndrome Joubert syndrome 6 ?Bardet-Biedl syndrome? Senior-Boichis syndrome 613550 607361 Meckel-Gruber syndrome Meckel syndrome 610688 Nephronophthisis 11 216360 Tags
Green Green List (high evidence)	TRAF3IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Phenotypes Senior-Loken syndrome 9 616629 Tags
Green Green List (high evidence)	TTC21B	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Other UKGTN Phenotypes Nephronophthisis 12, 613820 Short-rib thoracic dysplasia 4 with or without polydactyly Jeune syndrome Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 Nephronophthisis Tags watchlist_moi
Green Green List (high evidence)	TTC8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 8 Tags
Green Green List (high evidence)	TXNDC15	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes MGS Meckel-Gruber syndrome Tags gene-checked
Green Green List (high evidence)	WDPCP	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 15, 615992 Meckel syndrome ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 13, 614377 ?Short-rib thoracic dysplasia 5 with or without polydactyly Senior-Loken syndrome 8, 616307 Cranioectodermal dysplasia ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Jeune syndrome Senior-Loken syndrome ?Cranioectodermal dysplasia 4, 614378 Nephronophthisis Tags
Green Green List (high evidence)	WDR35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cranioectodermal dysplasia 2, 613610 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Green Green List (high evidence)	WDR60	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome SHORT-RIB POLYDACTYLY Tags new-gene-name
Green Green List (high evidence)	XPNPEP3	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Orphanet Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	ADAMTS9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Nephronophthisis-Related Ciliopathy Tags
Amber Amber List (moderate evidence)	BBIP1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags
Amber Amber List (moderate evidence)	CEP55	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meckel-like syndrome autosomal recessive lethal ciliopathy renal dysplasia Tags
Amber Amber List (moderate evidence)	DCDC2	7 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Orphanet Radboud University Medical Center, Nijmegen Phenotypes Neonatal sclerosing cholangitis Nephronophthisis 19, 616217 Tags
Amber Amber List (moderate evidence)	GLIS2	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis NPHP Nephronophthisis 7, 611498 Tags
Amber Amber List (moderate evidence)	KIF14	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags watchlist
Amber Amber List (moderate evidence)	NEK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags watchlist
Amber Amber List (moderate evidence)	PDIA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber Amber List (moderate evidence)	SCLT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Tags
Amber Amber List (moderate evidence)	ZNF423	5 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Amber Orphanet Other Radboud University Medical Center, Nijmegen Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red Red List (low evidence)	ARMC9	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Joubert syndrome 30, OMIM:617622 Tags
Red Red List (low evidence)	B9D1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Orphanet Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Red Red List (low evidence)	C8orf37	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Bardet-Biedl syndrome 21, 617406 Tags new-gene-name
Red Red List (low evidence)	CCDC28B	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes ciliopathies {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	EXOC3L2	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Dandy-Walker malformation enlarged echogenic kidneys echogenic kidneys hydrocephalus anhydramnios Tags
Red Red List (low evidence)	EXOC8	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) Tags
Red Red List (low evidence)	IFT74	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Bardet-Biedl syndrome 20, 617119 Tags
Red Red List (low evidence)	KIAA0556	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red Red List (low evidence)	MUC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	PDE6D	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Other Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Joubert syndrome 22 Joubert Syndrome and Senior-Loken Syndrome 24 gene panel ?Joubert syndrome 22, 615665 Tags
Red Red List (low evidence)	PIBF1	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Literature Research Phenotypes Joubert syndrome ataxia vermis hypoplasia developmental delay thick superior cerebellar peduncles superior cerebellar dysplasia Tags
Red Red List (low evidence)	SEC63	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	SLC41A1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nephronophthisis Tags
Red Red List (low evidence)	TRIM32	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Red Red List (low evidence)	UMOD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert list Expert Review Red UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
No list No list	CYS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Polycystic kidney disease, MONDO:0020642 Tags

Major version comments

2023-03-22 15:26 Eleanor Williams (Genomics England Curator) 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.

2022-11-30 13:58 Catherine Snow (Genomics England) promoted panel to 2.0
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 (2.0) following this

2019-09-03 15:05 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.4 ) was signed off under NHS Genomic Medicine Service governance on (03/September/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Renal ciliopathies (Version 3.5)

20 reviewers

103 Entities

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