Cystic renal disease (Version 7.34)

The latest signed off version for the GMS is v7.1. The current version, shown here, may differ from the signed-off version.

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R193 Cystic renal disease' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R193 Cystic renal disease'.

This panel is a super panel composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel.

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 is comprised of:
- The Cystic kidney disease gene panel version 3.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/283/?version=4.0)
- The Renal ciliopathies gene panel version 2.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/725/?version=3.0)

The constituent panels will continue to be curated based on external reviews and Genomics England curation. New changes to constituent panels will be reflected in an increase to the minor version of the panel and details of these can be viewed on each constituent panel '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.

One or more of the constituent panels of this super 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

178 Entities

176 reviewed, 111 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 178 Entitiess
Green Green List (high evidence)	AHI1 Renal ciliopathies v3.5	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)	ALG5 Cystic kidney disease v4.24	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Polycystic kidney disease 7, OMIM:620056 Tags
Green Green List (high evidence)	ALG8 Cystic kidney disease v4.24	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes cystic liver disease cystic kidney disease Polycystic liver disease 3 with or without kidney cysts, 617874 Tags
Green Green List (high evidence)	ALG9 Cystic kidney disease v4.24	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes cystic liver disease cystic kidney disease Gillessen-Kaesbach-Nishimura syndrome, 263210 Tags
Green Green List (high evidence)	ALMS1 Renal ciliopathies v3.5	6 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Eligibility statement prior genetic testing UKGTN Expert list Phenotypes Bardet-Biedl Syndrome Alstrom syndrome, OMIM:203800 Tags
Green Green List (high evidence)	ANKS6 Cystic kidney disease v4.24	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 16, OMIM:615382 Tags
Green Green List (high evidence)	ANKS6 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list 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 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 8 Tags
Green Green List (high evidence)	ARL6 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Oral-facial-digital syndrome type VI Joubert syndrome 17 Tags new-gene-name
Green Green List (high evidence)	CC2D2A Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 9 COACH syndrome Joubert syndrome with oculorenal defect Meckel syndrome 6 Meckel syndrome Tags
Green Green List (high evidence)	CENPF Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Other Phenotypes Joubert syndrome 25, 616781 Joubert syndrome 25 Tags
Green Green List (high evidence)	CEP164 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes ciliopathies Nephronophthisis 15 Senior-Loken syndrome Nephronophthisis 15, 614845 Tags
Green Green List (high evidence)	CEP164 Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	CEP290 Renal ciliopathies v3.5	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green 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 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CEP83 Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes NEPHRONOPHTHISIS 18 Tags
Green Green List (high evidence)	CEP83 Renal ciliopathies v3.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 18 615862 Tags
Green Green List (high evidence)	COL4A1 Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review 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)	CRB2 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green Green List (high evidence)	DDX59 Renal ciliopathies v3.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green Green List (high evidence)	DHCR7 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	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)	DNAJB11 Cystic kidney disease v4.24	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)	DYNC2H1 Renal ciliopathies v3.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	DZIP1L Cystic kidney disease v4.24	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Polycystic kidney disease 5, OMIM:617610 polycystic kidney disease 5, MONDO_0033281 Tags
Green Green List (high evidence)	FLCN Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review 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 Cystic kidney disease v4.24	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Mild cystic kidney and liver disease Polycyctic kidney disease 3 Tags
Green Green List (high evidence)	GLA Cystic kidney disease v4.24	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 NHS GMS Expert Review Green Expert Phenotypes Fabry disease, OMIM:301500 Fabry disease, MONDO:0010526 Renal cyst, HP:0000107 renal parapelvic cysts Tags
Green Green List (high evidence)	HNF1B Renal ciliopathies v3.5	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Green Green List (high evidence)	HNF1B Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Literature Phenotypes Renal cysts and diabetes syndrome Tags
Green Green List (high evidence)	HYLS1 Renal ciliopathies v3.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Joubert syndrome Hydrolethalus syndrome, 236680 Tags
Green Green List (high evidence)	ICK Renal ciliopathies v3.5	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Cranioectodermal dysplasia Cranioectodermal dysplasia 1, 218330 Tags
Green Green List (high evidence)	IFT140 Renal ciliopathies v3.5	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review 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)	IFT140 Cystic kidney disease v4.24	6 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Research Literature 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 Renal ciliopathies v3.5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 Tags
Green Green List (high evidence)	IFT27 Renal ciliopathies v3.5	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 19, OMIM:615996 Tags
Green Green List (high evidence)	IFT43 Renal ciliopathies v3.5	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Expert Review Green Phenotypes Cranioectodermal dysplasia 3, 614099 Sensenbrenner syndrome Short-rib thoracic dysplasia 18 with polydactyly, 617866 Tags
Green Green List (high evidence)	INPP5E Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Joubert syndrome 1 Tags
Green Green List (high evidence)	INVS Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	INVS Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Senior-Loken syndrome Nephronophthisis 2, infantile, 602088 Nephronophthisis Tags
Green Green List (high evidence)	IQCB1 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory 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 Cystic kidney disease v4.24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen 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)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen 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 Cystic kidney disease v4.24	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen 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)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region Renal ciliopathies v3.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen 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 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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 Renal ciliopathies v3.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome Short-rib skeletal dysplasia Tags
Green Green List (high evidence)	KIF7 Renal ciliopathies v3.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green Green List (high evidence)	LZTFL1 Renal ciliopathies v3.5	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Expert Review Green Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green Green List (high evidence)	MAPKBP1 Renal ciliopathies v3.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephronophthisis 20 617271 Tags
Green Green List (high evidence)	MAPKBP1 Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes NEPHRONOPHTHISIS 20 Tags
Green Green List (high evidence)	MKKS Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green 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 Renal ciliopathies v3.5	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Expert Review Green Phenotypes Renal-hepatic-pancreatic dysplasia ?Renal-hepatic-pancreatic dysplasia 2, 615415 Nephronophthisis ?Nephronophthisis 9, 613824 Tags
Green Green List (high evidence)	NPHP1 Renal ciliopathies v3.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 4 Senior-Loken syndrome 256100 Senior-Loken syndrome-1, 266900 609583 Nephronophthisis 1, juvenile Nephronophthisis Tags
Green Green List (high evidence)	NPHP1 Cystic kidney disease v4.24	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	NPHP3 Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	NPHP3 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory 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 Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	NPHP4 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Senior-Loken syndrome Nephronophthisis Senior-Loken syndrome 4, 606996 Nephronophthisis 4, 606966 Tags
Green Green List (high evidence)	OFD1 Renal ciliopathies v3.5	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)	PAX2 Cystic kidney disease v4.24	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 Renal ciliopathies v3.5	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list 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)	PKD1 Cystic kidney disease v4.24	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Radboud University Medical Center, Nijmegen 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 Cystic kidney disease v4.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Expert Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Polycystic Kidney Disease, Autosomal Dominant Polycystic kidney disease 2, 613095 Autosomal Dominant Polycystic Kidney Disease Tags
Green Green List (high evidence)	PKD2 Renal ciliopathies v3.5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic kidney disease 2, 613095 Tags
Green Green List (high evidence)	PKHD1 Cystic kidney disease v4.24	1 review 1 green	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 Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Autosomal Recessive Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	PKHD1 Renal ciliopathies v3.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	PMM2 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome 7 Meckel syndrome 5 Joubert syndrome Meckel syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	SDCCAG8 Renal ciliopathies v3.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Phenotypes SENIOR-LOKEN SYNDROME Bardet-Biedl Syndrome 613615 Senior-Loken syndrome Tags
Green Green List (high evidence)	TCTN1 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome Tags
Green Green List (high evidence)	TCTN2 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TCTN3 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Orofaciodigital syndrome IV Joubert syndrome 18 Meckel-Gruber Mohr-Majewski syndrome Tags
Green Green List (high evidence)	TMEM107 Renal ciliopathies v3.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Meckel syndrome 13 617562 ?Joubert syndrome 29 617562 Orofaciodigital syndrome XVI 617563 Tags
Green Green List (high evidence)	TMEM138 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16 Tags
Green Green List (high evidence)	TMEM216 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome: Meckel-Gruber syndrome Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 2 Tags
Green Green List (high evidence)	TMEM231 Renal ciliopathies v3.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen Expert list Other Emory Genetics Laboratory 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 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome 14 Tags
Green Green List (high evidence)	TMEM67 Cystic kidney disease v4.24	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	TMEM67 Renal ciliopathies v3.5	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green 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 Renal ciliopathies v3.5	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)	TSC1 Cystic kidney disease v4.24	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Tags
Green Green List (high evidence)	TSC2 Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Tags
Green Green List (high evidence)	TTC21B Renal ciliopathies v3.5	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet UKGTN Expert list Other Emory Genetics Laboratory 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)	TTC21B Cystic kidney disease v4.24	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags watchlist_moi
Green Green List (high evidence)	TTC8 Renal ciliopathies v3.5	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)	TULP3 Cystic kidney disease v4.24	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags
Green Green List (high evidence)	TXNDC15 Renal ciliopathies v3.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes MGS Meckel-Gruber syndrome Tags gene-checked
Green Green List (high evidence)	UMOD Cystic kidney disease v4.24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000 Tags
Green Green List (high evidence)	VHL Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Tags
Green Green List (high evidence)	WDPCP Renal ciliopathies v3.5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes ?Bardet-Biedl syndrome 15, 615992 Meckel syndrome ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory 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)	WDR19 Cystic kidney disease v4.24	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 13, Senior-Loken Tags
Green Green List (high evidence)	WDR35 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory 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 Renal ciliopathies v3.5	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Expert Review Green 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 Renal ciliopathies v3.5	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green Green List (high evidence)	XPNPEP3 Cystic kidney disease v4.24	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	ADAMTS9 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Nephronophthisis-Related Ciliopathy Tags
Amber Amber List (moderate evidence)	BBIP1 Renal ciliopathies v3.5	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags
Amber Amber List (moderate evidence)	CEP290 Cystic kidney disease v4.24	4 reviews 2 green	Not set	Sources Expert Review Amber Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Amber Amber List (moderate evidence)	CEP55 Renal ciliopathies v3.5	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)	COL4A4 Cystic kidney disease v4.24	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)	DCDC2 Renal ciliopathies v3.5	7 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Orphanet Expert list Radboud University Medical Center, Nijmegen Phenotypes Neonatal sclerosing cholangitis Nephronophthisis 19, 616217 Tags
Amber Amber List (moderate evidence)	GLIS2 Renal ciliopathies v3.5	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen Expert Review Amber UKGTN Expert list Emory Genetics Laboratory Phenotypes Nephronophthisis NPHP Nephronophthisis 7, 611498 Tags
Amber Amber List (moderate evidence)	KIF14 Renal ciliopathies v3.5	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Orphanet Expert list Radboud University Medical Center, Nijmegen Other Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags watchlist
Amber Amber List (moderate evidence)	NEK1 Renal ciliopathies v3.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags watchlist
Amber Amber List (moderate evidence)	NEK8 Cystic kidney disease v4.24	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Phenotypes polycystic kidney disease, MONDO:0020642 ?Nephronophthisis 9, OMIM:613824 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PDIA6 Renal ciliopathies v3.5	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)	PRKCSH Cystic kidney disease v4.24	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert 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)	SCLT1 Renal ciliopathies v3.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Tags
Amber Amber List (moderate evidence)	SEC61A1 Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert Review 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 Cystic kidney disease v4.24	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert 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 Renal ciliopathies v3.5	5 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Orphanet Radboud University Medical Center, Nijmegen Expert Review Amber Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Amber Amber List (moderate evidence)	ZNF423 Cystic kidney disease v4.24	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red Red List (low evidence)	AHI1 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARL13B Cystic kidney disease v4.24	2 reviews 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARL6 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARMC9 Renal ciliopathies v3.5	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 Renal ciliopathies v3.5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Expert Review Red Emory Genetics Laboratory 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)	BBS1 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS10 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS12 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS2 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS4 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS5 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS9 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	C5orf42 Cystic kidney disease v4.24	3 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags new-gene-name
Red Red List (low evidence)	C8orf37 Renal ciliopathies v3.5	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)	CC2D2A Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CCDC28B Renal ciliopathies v3.5	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Expert Review Red Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes ciliopathies {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CCDC28B Cystic kidney disease v4.24	2 reviews	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CEP41 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	COL4A5 Cystic kidney disease v4.24	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)	EXOC3L2 Renal ciliopathies v3.5	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Red Expert list Phenotypes Dandy-Walker malformation enlarged echogenic kidneys echogenic kidneys hydrocephalus anhydramnios Tags
Red Red List (low evidence)	EXOC8 Renal ciliopathies v3.5	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)	GLIS2 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	IFT74 Renal ciliopathies v3.5	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)	INPP5E Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	IQCB1 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	KIAA0556 Renal ciliopathies v3.5	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Joubert syndrome 26 Tags new-gene-name
Red Red List (low evidence)	KIF7 Cystic kidney disease v4.24	1 review 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	MKS1 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	MUC1 Renal ciliopathies v3.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	MUC1 Cystic kidney disease v4.24	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Phenotypes Medullary cystic kidney disease 1, 174000 Tags
Red Red List (low evidence)	OFD1 Cystic kidney disease v4.24	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 Review Red Expert Tags
Red Red List (low evidence)	PDE6D Renal ciliopathies v3.5	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Radboud University Medical Center, Nijmegen Other 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 Renal ciliopathies v3.5	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Literature Research Phenotypes Joubert syndrome ataxia vermis hypoplasia developmental delay thick superior cerebellar peduncles superior cerebellar dysplasia Tags
Red Red List (low evidence)	RPGRIP1L Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	SDCCAG8 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	SEC63 Renal ciliopathies v3.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	SLC41A1 Renal ciliopathies v3.5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephronophthisis Tags
Red Red List (low evidence)	TCTN1 Cystic kidney disease v4.24	2 reviews	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TCTN3 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM138 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM216 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM231 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM237 Cystic kidney disease v4.24	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TRIM32 Cystic kidney disease v4.24	1 review 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TRIM32 Renal ciliopathies v3.5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Expert Review Red Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Red Red List (low evidence)	TTC8 Cystic kidney disease v4.24	1 review 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	UMOD Renal ciliopathies v3.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red Red List (low evidence)	WDPCP Cystic kidney disease v4.24	1 review	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
No list No list	CLCN5 Cystic kidney disease v4.24	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
No list No list	CYS1 Renal ciliopathies v3.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Polycystic kidney disease, MONDO:0020642 Tags

Major version comments

2018-12-20 14:07 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
Promoting to Version 1 to allow a super panel to be built.

Cystic renal disease (Version 7.34)

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