Renal and urinary tract disorders (Version 1.22)

This Panel is marked as Internal

Description

This panel has been replaced by https://panelapp.genomicsengland.co.uk/panels/678/ 

This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

This panel was originally created from the following gene panels:
- Cystic kidney disease (v1.33, code 283)
- CAKUT (v1.29, code 234)
- End-stage renal disease - childhood onset (v1.23, code 156)

Panel Activity

18 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Bill Newman (Manchester Centre for Genomic Medicine)

Group: other
Workplace: other
Sian Ellard (University of Exeter Medical School)

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
Helen Stuart (University of Manchester)

Group: GeCIP domain
Workplace: NHS clinical service
Fiona Karet (Universit y of Cambridge)

Group: GeCIP domain
Workplace: NHS clinical service
Ellen Thomas (Genomics England Curator)

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

Group: Other
Workplace: Other
Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

Group: Other
Workplace: Research lab
Sarah Leigh (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
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Detlef Bockenhauer (GOSH-UCL)

Group: GeCIP domain
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

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

Group: Other
Workplace: Other

180 Entities

158 reviewed, 94 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 180 Entitiess
Green Green List (high evidence)	ACE	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis Renal Tubular Dysgenesis 267430 {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular Tags
Green Green List (high evidence)	ACTG2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes visceral myopathy Megacystis-microcolon intestinal hypoperistalsis syndrome Berdon syndrome Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 Tags
Green Green List (high evidence)	ACTN4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 1 603278 Tags
Green Green List (high evidence)	AGT	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis Renal tubular dysgenesis, 267430 {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	AGTR1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis Renal tubular dysgenesis, 267430 Hypertension, essential, 145500 Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	AMN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megaloblastic anemia-1, Norwegian type 261100 Tags
Green Green List (high evidence)	ANKS6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 16 615382 Tags
Green Green List (high evidence)	ANOS1	7 reviews 2 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Kallman syndrome Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) Tags
Green Green List (high evidence)	ARHGDIA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 8 615244 Tags
Green Green List (high evidence)	BNC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Posterior urethral valves PUV Congenital lower urinary-tract obstruction Tags
Green Green List (high evidence)	C3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C3 deficiency 613779 AR {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD Tags
Green Green List (high evidence)	CD46	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 Tags
Green Green List (high evidence)	CEP164	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 15 614845 Tags
Green Green List (high evidence)	CEP83	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes NEPHRONOPHTHISIS 18 Tags
Green Green List (high evidence)	CFB	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924 Tags
Green Green List (high evidence)	CFH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor H deficiency 609814 {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 Tags
Green Green List (high evidence)	CFI	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 Tags
Green Green List (high evidence)	CHD7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CHARGE syndrome 214800 Tags
Green Green List (high evidence)	CLCN5	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Nephrolithiasis, type I, 310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Dent disease, 300009 Hypophosphatemic rickets, 300554 Tags
Green Green List (high evidence)	COL4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes haematuria tortuous retinal vessels intracranial anuerysms Exophytic renal cysts Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 raised creatinine kinase Tags
Green Green List (high evidence)	COL4A3	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alport syndrome, autosomal dominant, 104200 Hematuria, benign familial, 141200 Alport syndrome, autosomal recessive, 203780 Tags
Green Green List (high evidence)	COL4A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alport syndrome, autosomal recessive, 203780 Hematuria,familial benign Tags
Green Green List (high evidence)	COL4A5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Alport syndrome 301050 Tags
Green Green List (high evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1 301050 Tags
Green Green List (high evidence)	COQ6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6 614650 Tags
Green Green List (high evidence)	COQ8B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nephrotic syndrome, type 9 615573 Tags
Green Green List (high evidence)	CTNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Tags
Green Green List (high evidence)	CUBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100 Tags
Green Green List (high evidence)	DGKE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 Nephrotic syndrome, type 7 615008 Tags
Green Green List (high evidence)	DNAJB11	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes end stage renal failure non-enlarged kidney cystic kidney disease Polycystic kidney disease Tubulointerstitial kidney disease Tags
Green Green List (high evidence)	DSTYK	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Renal hypodysplasia vesicoureteric reflux {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 ureteropelvic junction obstruction CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 {Congenital anomalies of kidney and urinary tract, susceptibility to} Tags
Green Green List (high evidence)	DZIP1L	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ARPKD Polycystic kidney disease 5 617610 Tags
Green Green List (high evidence)	EYA1	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650 Anterior segment anomalies with or without cataract, 113650 Branchiootic syndrome 1, 602588 Otofaciocervical syndrome, 166780 Branchiootorenal syndrome 1, with or without cataracts Branchiootorenal Spectrum Disorders Tags
Green Green List (high evidence)	FRAS1	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome Fraser syndrome 219000 Tags
Green Green List (high evidence)	FREM1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bifid nose with or without anorectal and renal anomalies, 608980 Tags
Green Green List (high evidence)	FREM2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome Fraser syndrome 219000 Tags
Green Green List (high evidence)	GANAB	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Mild cystic kidney and liver disease Polycyctic kidney disease 3 Tags
Green Green List (high evidence)	GATA3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Tags
Green Green List (high evidence)	GLA	3 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes enal insufficiency renal failure Fabry disease, 301500 Tags
Green Green List (high evidence)	GLI3	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Pallister-Hall syndrome Pallister-Hall syndrome 146510 Tags
Green Green List (high evidence)	GRIP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes isolated CAKUT Fraser syndrome Fraser syndrome 219000 Tags
Green Green List (high evidence)	HAAO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple congenital malformations VACTERL-like phenotype Tags
Green Green List (high evidence)	HNF1B	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Renal cysts and diabetes syndrome 137920 Diabetes mellitus, noninsulin-dependent 125853 {Renal cell carcinoma} 144700 Diabetes mellitus, noninsulin-dependent Renal cysts and diabetes syndrome Tags
Green Green List (high evidence)	HPSE2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Urofacial syndrome 1 236730 Urofacial Syndrome Congenital bladder disease: dyssynergic, high pressure bladder Tags
Green Green List (high evidence)	INF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 5 613237 Charcot-Marie-Tooth disease, dominant intermediate E 614455 Tags
Green Green List (high evidence)	INVS	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 2, infantile 602088 Tags
Green Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes 194072 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome Tags
Green Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources 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 Expert Review Green Phenotypes Autism Spectrum Disorder global developmental delay RCAD syndrome delayed development, intellectual disability Chromosome 17q12 deletion syndrome utero-vaginal atresia Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Schizophrenia 614527 Renal cysts and diabetes syndrome Tags
Green Green List (high evidence)	ITGA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748 Tags
Green Green List (high evidence)	ITGA8	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal hypodysplasia/aplasia 1, 191830 Tags
Green Green List (high evidence)	KYNU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) VACTERL-like phenotype multiple congenital malformations ?Hydroxykynureninuria, 236800 Tags
Green Green List (high evidence)	LAMB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 Pierson syndrome 609049 Tags
Green Green List (high evidence)	LMX1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Nail-patella syndrome 161200 Tags
Green Green List (high evidence)	LRIG2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital bladder disease: dyssynergic, high pressure bladder. Urofacial syndrome 2 615112 Urofacial syndrome Tags
Green Green List (high evidence)	MAPKBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes NEPHRONOPHTHISIS 20 Tags
Green Green List (high evidence)	MUC1	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Medullary cystic kidney disease 1 Medullary cystic kidney disease 1, 174000 Tags
Green Green List (high evidence)	MYH9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Fechtner syndrome 153640 Epstein syndrome 153650 Tags
Green Green List (high evidence)	MYO1E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 6 614131 Tags
Green Green List (high evidence)	NPHP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 4 609583 Nephronophthisis 1, juvenile 256100 Senior-Loken syndrome-1 266900 Tags
Green Green List (high evidence)	NPHP3	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Renal-hepatic-pancreatic dysplasia 1, 208540 Nephronophthisis 3, 604387 Renal-Hepatic-Pancreatic Dysplasia Meckel syndrome 7, 267010 Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Meckel syndrome 7, 267010 Tags
Green Green List (high evidence)	NPHP4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 4 606966 Senior-Loken syndrome 4 606996 Tags
Green Green List (high evidence)	NPHS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 1 256300 Tags
Green Green List (high evidence)	NPHS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 2 600995 Tags
Green Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 11 616730 Tags
Green Green List (high evidence)	NUP93	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 12 616892 Tags
Green Green List (high evidence)	OFD1	4 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 Review Green Phenotypes Joubert syndrome 10 300804 Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Tags
Green Green List (high evidence)	PAX2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Papillorenal syndrome Papillorenal syndrome, 120330 Glomerulosclerosis, focal segmental, 7 Glomerulosclerosis, focal segmental, 7 616002 RENAL-COLOBOMA SYNDROME Tags
Green Green List (high evidence)	PBX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CAKUT Tags
Green Green List (high evidence)	PKD1	4 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green 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	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Autosomal Dominant Polycystic Kidney Disease Polycystic kidney disease 2, 613095 Polycystic Kidney Disease, Autosomal Dominant Tags
Green Green List (high evidence)	PKHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Autosomal Recessive Polycystic kidney and hepatic disease, 263200 Tags
Green Green List (high evidence)	PLCE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 3 610725 Tags
Green Green List (high evidence)	REN	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis [Hyperproreninemia] Hyperuricemic nephropathy, familial juvenile 2613092 Renal tubular dysgenesis 267430 Tags
Green Green List (high evidence)	RET	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Multiple endocrine neoplasia IIA, 171400 Central hypoventilation syndrome, congenital, 209880 Pheochromocytoma, 171300 Renal agenesis, 191830 Multiple endocrine neoplasia IIB, 162300 Multiple endocrine neoplasia IIA, 171400 Medullary thyroid carcinoma, 155240 Multiple endocrine neoplasia IIB, 162300 Central hypoventilation syndrome, congenital, 209880 Pheochromocytoma, 171300 Renal agenesis, 191830 {Hirschsprung disease, susceptibility to, 1}, 142623 Medullary thyroid carcinoma, 155240 {Hirschsprung disease, susceptibility to, 1}, 142623 Renal Adysplasia Tags
Green Green List (high evidence)	RPGRIP1L	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease COACH syndrome 216360 Joubert syndrome 7 611560 Meckel syndrome 5 611561 Tags
Green Green List (high evidence)	RRM2B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Tags
Green Green List (high evidence)	SALL1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes imperforate anus, ear abnormalities, thumb abnormalities Townes-Brocks branchiootorenal-like syndrome, 107480 Townes-Brocks syndrome, 107480 Tags
Green Green List (high evidence)	SCARB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure 254900 Tags
Green Green List (high evidence)	SGPL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SIX5	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Green Green List (high evidence)	SMARCAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Schimke immunoosseous dysplasia 242900 Tags
Green Green List (high evidence)	TBX18	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital anomalies of kidney and urinary tract 2 143400 Tags
Green Green List (high evidence)	TMEM67	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease COACH syndrome 216360 Nephronophthisis 11 613550 Joubert syndrome 6 610688 Meckel syndrome 3 607361 {Bardet-Biedl syndrome 14, modifier of} 615991 Tags
Green Green List (high evidence)	TRAP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VACTERL 192350 CAKUT Tags
Green Green List (high evidence)	TRPC6	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 2 603965 Tags
Green Green List (high evidence)	TSC1	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Tuberous sclerosis-1 191100 Tags
Green Green List (high evidence)	TSC2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Tuberous sclerosis-2 613254 Tags
Green Green List (high evidence)	TTC21B	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 12 613820 Tags
Green Green List (high evidence)	UMOD	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 Medullary cystic kidney disease 2 603860 Hyperuricemic nephropathy, familial juvenile 1, 162000 Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1 162000 Uromodulin-associated kidney disease Tags
Green Green List (high evidence)	VHL	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes von Hippel-Lindau syndrome 193300 Tags
Green Green List (high evidence)	VPS33B	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Arthrogryposis, renal dysfunction, and cholestasis 1 Tags
Green Green List (high evidence)	WDR19	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 13 Senior-Loken Tags
Green Green List (high evidence)	WT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 4 256370 Tags
Amber Amber List (moderate evidence)	CEP290	4 reviews 2 green	Unknown	Sources Expert Review Amber Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ACTA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Multi system smooth muscle dysfunction Tags
Red Red List (low evidence)	AHI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome-3 608629 Tags
Red Red List (low evidence)	ALG1	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ALMS1	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	APOL1	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ARHGAP24	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ARL13B	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ARL6	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS1	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS10	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS12	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS2	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS4	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS5	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BBS9	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	BICC1	3 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 Tags
Red Red List (low evidence)	BMP4	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	BSND	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Tags
Red Red List (low evidence)	C5orf42	3 reviews 1 green	Unknown	Sources 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	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CCDC28B	2 reviews	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CD151	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CD2AP	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CEP41	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CFHR5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes macroscopic haematuria kidney failure Haematuria C3 glomerulopathy Tags
Red Red List (low evidence)	CHD1L	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes ORPHA93545 Renal or urinary tract malformation (CAKUT) Tags
Red Red List (low evidence)	CHRM3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Prune Belly-Like Syndrome Low pressure congenital megabladder Tags
Red Red List (low evidence)	COL4A6	0 reviews	Unknown	Sources Expert Review Red Phenotypes Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) (originally on Alport syndrome gene panel) diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Tags
Red Red List (low evidence)	COX10	2 reviews 2 red	Unknown	Sources Expert Review Red Phenotypes Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency Tags
Red Red List (low evidence)	CYP11B2	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	DACT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes ?Townes-Brocks syndrome 2,617466 TBS2 Tags
Red Red List (low evidence)	DHFR	0 reviews	Unknown	Sources Expert Review Red Phenotypes (originally on the Imerslund-Grasbeck syndrome gene panel) Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Tags
Red Red List (low evidence)	DLG3	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	E2F3	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FOXC1	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FOXC2	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	GDNF	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	GIF	1 review	Unknown	Sources Expert Review Red Phenotypes GIF mutations may phenocopy this disorder (originally on the Imerslund-Grasbeck syndrome gene panel) Tags new-gene-name
Red Red List (low evidence)	GLIS2	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	GREM1	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	HCN3	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	INPP5E	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	IQCB1	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ITGB4	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	KANK2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome Tags
Red Red List (low evidence)	KIF7	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	KIT	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	MKS1	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	MTR	0 reviews	Unknown	Sources Expert Review Red Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	MTRR	0 reviews	Unknown	Sources Expert Review Red Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	MYH11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome Tags
Red Red List (low evidence)	NEK8	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 Tags
Red Red List (low evidence)	OCRL	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Tags
Red Red List (low evidence)	PDSS2	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	PMM2	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	PRKCSH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	PTPRO	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ROBO2	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Vesicoureteral reflux 2, 610878 Vesicoureteral Reflux Tags
Red Red List (low evidence)	SDCCAG8	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	SEC63	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	SHH	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SIX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Branchiootorenal Spectrum Disorders Tags
Red Red List (low evidence)	SLC19A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Thiamine-Responsive Megaloblastic Anemia Thiamine-responsive megaloblastic anemia syndrome, 249270 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	SLC19A3	0 reviews	Unknown	Sources Expert Review Red Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	SLIT2	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SMARCA4	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SOX17	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes Vesicoureteral reflux 3, 613674 Tags
Red Red List (low evidence)	SPRY1	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	TCTN1	2 reviews	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TCTN3	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM138	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM216	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM231	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TMEM237	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TNXB	1 review 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TSHZ3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	TTC8	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	UPK2	2 reviews 2 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Tags
Red Red List (low evidence)	UPK3A	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Renal Adysplasia Tags
Red Red List (low evidence)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 Tags
Red Red List (low evidence)	WDPCP	1 review	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	XPNPEP3	1 review 1 red	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	ZMPSTE24	0 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ZNF423	0 reviews	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags

Major version comments

2019-01-30 16:20 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
Checked against the component panels, and ready to be promoted to version 1.

Renal and urinary tract disorders (Version 1.22)

18 reviewers

180 Entities

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