Unexplained young onset end-stage renal disease (Version 3.42)

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

Description

This panel is used for clinical indication 'R257 Unexplained young onset end-stage renal disease' in the NHS Genomic Medicine Service.

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 'R257 Unexplained young onset end-stage renal disease'.

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

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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

Panel Activity

25 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
Moin Saleem (University of Bristol)

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
Rebecca Foulger (Genomics England curator)

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

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

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

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

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

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

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

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

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

Group: Other
Workplace: Other
Yu Leng Phua (Icahn School of Medicine at Mount Sinai and ClinGen)

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

Group: Other
Workplace: Other

305 Entities

305 reviewed, 183 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 305 Entitiess
Green Green List (high evidence)	ACE	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis {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 Renal Tubular Dysgenesis 267430 Tags
Green Green List (high evidence)	ACTG2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Berdon syndrome visceral myopathy Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310 Megacystis-microcolon intestinal hypoperistalsis syndrome 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	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 Renal tubular dysgenesis, 267430 Tags
Green Green List (high evidence)	AGTR1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis Renal tubular dysgenesis, 267430 Hypertension, essential, 145500 Tags
Green Green List (high evidence)	AGXT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperoxaluria, primary, type 1, 259900 Primary Hyperoxaluria Hyperoxaluria primary hyperoxaluria Primary Hyperoxaluria Type 1 Tags
Green Green List (high evidence)	AHI1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome-3 608629 Tags
Green Green List (high evidence)	ALMS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alstrom Syndrome Bardet-Biedl Syndrome 203800 Alstrom syndrome Tags
Green Green List (high evidence)	AMN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megaloblastic anemia-1, Norwegian type 261100 Tags
Green Green List (high evidence)	ANKS6	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephronophthisis 16 615382 Ciliopathy genes associated with cystic kidney disease 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 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) Kallman syndrome Tags
Green Green List (high evidence)	ARHGDIA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 8 615244 Tags
Green Green List (high evidence)	ARL13B	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome type 8 612291 Tags
Green Green List (high evidence)	ARL6	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardel-Biedl syndrome type 3 600151 Tags
Green Green List (high evidence)	ARMC9	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 30, 617622 Tags
Green Green List (high evidence)	B9D2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green Green List (high evidence)	BBS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 10 615987 Tags
Green Green List (high evidence)	BBS12	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 12 615989 Tags
Green Green List (high evidence)	BBS2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 2 615981 Tags
Green Green List (high evidence)	BBS4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 4 615982 Tags
Green Green List (high evidence)	BBS5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 5 615983 Tags
Green Green List (high evidence)	BBS7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bardet Biedl syndrome 7 Tags
Green Green List (high evidence)	BBS9	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 9 615986 Tags
Green Green List (high evidence)	BNC2	3 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 Lower urinary tract obstruction, congenital, 618612 Tags
Green Green List (high evidence)	BSND	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Tags
Green Green List (high evidence)	C3	2 reviews	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)	C5orf42	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 17 614615 Tags new-gene-name
Green Green List (high evidence)	CC2D2A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 9 612285 Meckel syndrome 6 612284 Tags
Green Green List (high evidence)	CD46	2 reviews	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)	CENPF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green Green List (high evidence)	CEP104	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 25 Joubert syndrome 25, 616781 Tags
Green Green List (high evidence)	CEP164	4 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)	CEP290	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755 Tags
Green Green List (high evidence)	CEP41	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 15 614464 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	2 reviews	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	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400 Complement factor H deficiency 609814 Tags
Green Green List (high evidence)	CFHR1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes IC-MPGN Immune-complex-mediated MPGN C3 glomerulopathy Immune complex MPGN Hemolytic uremic syndrome, atypical, susceptibility to, 235400 C3G Tags
Green Green List (high evidence)	CFHR3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to 235400 Tags
Green Green List (high evidence)	CFHR5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Haematuria macroscopic haematuria kidney failure C3 glomerulopathy Tags
Green Green List (high evidence)	CFI	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923 Complement factor I deficiency, OMIM:610984 Tags
Green Green List (high evidence)	CHD7	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CHARGE syndrome 214800 Tags
Green Green List (high evidence)	CHRM3	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Prune belly syndrome, OMIM:100100 Megacystis Urinary Bladder Disease Tags
Green Green List (high evidence)	CLCN5	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Nephrolithiasis, type I, 310468 Dent disease, 300009 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Hypophosphatemic rickets, 300554 Tags
Green Green List (high evidence)	COL4A1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes raised creatinine kinase tortuous retinal vessels intracranial anuerysms Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 Exophytic renal cysts haematuria Tags
Green Green List (high evidence)	COL4A3	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alport syndrome, autosomal recessive, 203780 Alport syndrome, autosomal dominant, 104200 Hematuria, benign familial, 141200 Tags
Green Green List (high evidence)	COL4A4	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 Tags
Green Green List (high evidence)	COL4A5	2 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 Alport syndrome 301050 Tags
Green Green List (high evidence)	COQ2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green Green List (high evidence)	COQ6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6 614650 Tags
Green Green List (high evidence)	COQ8B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Nephrotic syndrome, type 9 615573 Tags
Green Green List (high evidence)	CRB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Ventriculomegaly with cystic kidney disease 219730 Tags
Green Green List (high evidence)	CSPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome Joubert syndrome 21 Joubert syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	CTNS	2 reviews 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	2 reviews	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)	DDX59	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Tags
Green Green List (high evidence)	DGKE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 7 615008 {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008 Tags
Green Green List (high evidence)	DHCR7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Smith-Lemli-Opitz syndrome 270400 Tags
Green Green List (high evidence)	DLC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Childhood and adult SSNS and SRNS Tags
Green Green List (high evidence)	DNAJB11	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Polycystic kidney disease Tubulointerstitial kidney disease cystic kidney disease non-enlarged kidney end stage renal failure Tags
Green Green List (high evidence)	DSTYK	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Renal hypodysplasia {Congenital anomalies of kidney and urinary tract, susceptibility to} CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 ureteropelvic junction obstruction {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 vesicoureteric reflux Tags
Green Green List (high evidence)	DYNC2H1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green Green List (high evidence)	DZIP1L	3 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	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 1, with or without cataracts, 113650 Otofaciocervical syndrome, 166780 Branchiootic syndrome 1, 602588 Branchiootorenal syndrome 1, with or without cataracts Branchiootorenal Spectrum Disorders Anterior segment anomalies with or without cataract, 113650 Tags
Green Green List (high evidence)	FAN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes interstitial nephritis chronic kidney disease Interstitial nephritis, karyomegalic, OMIM:614817 karyomegalic interstitial nephritis, MONDO:0013898 Tags
Green Green List (high evidence)	FAT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glomerulotubular nephropathy Tags gene-checked
Green Green List (high evidence)	FRAS1	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome 219000 Fraser syndrome Tags
Green Green List (high evidence)	FREM1	5 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	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome 219000 Fraser syndrome Tags
Green Green List (high evidence)	GANAB	4 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	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Tags
Green Green List (high evidence)	GATM	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fanconi renotubular syndrome 1, OMIM:134600 Tags
Green Green List (high evidence)	GLA	4 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 Green Phenotypes Fabry disease, 301500 renal insufficiency renal failure Tags
Green Green List (high evidence)	GLI3	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Pallister-Hall syndrome, OMIM:146510 Tags
Green Green List (high evidence)	GRHPR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Primary Hyperoxaluria Primary Hyperoxaluria Type 2 Hyperoxaluria, primary, type II, 260000 Hyperoxaluria Tags
Green Green List (high evidence)	GRIP1	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome 219000 Fraser syndrome isolated CAKUT Tags
Green Green List (high evidence)	HAAO	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VACTERL-like phenotype Multiple congenital malformations Tags
Green Green List (high evidence)	HNF1B	9 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Diabetes mellitus, noninsulin-dependent 125853 {Renal cell carcinoma} 144700 Diabetes mellitus, noninsulin-dependent Renal cysts and diabetes syndrome Renal cysts and diabetes syndrome 137920 Tags
Green Green List (high evidence)	HOGA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperoxaluria Primary Hyperoxaluria Hyperoxaluria, primary, type III, 613616 Tags
Green Green List (high evidence)	HPSE2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital bladder disease: dyssynergic, high pressure bladder Urofacial syndrome 1 236730 Urofacial Syndrome Tags
Green Green List (high evidence)	HYLS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hydrolethalus syndrome, 236680 Joubert syndrome Tags
Green Green List (high evidence)	ICK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name
Green Green List (high evidence)	IFT122	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cranioectodermal dysplasia 1, 218330 Cranioectodermal dysplasia Tags
Green Green List (high evidence)	IFT43	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cranioectodermal dysplasia 3, 614099 Sensenbrenner syndrome Short-rib thoracic dysplasia 18 with polydactyly, 617866 Tags
Green Green List (high evidence)	INF2	2 reviews	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)	INPP5E	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 1 213300 Tags
Green Green List (high evidence)	INVS	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephronophthisis 2, infantile 602088 Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	IQCB1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Senior-Loken syndrome 5 609254 Tags
Green Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region	2 reviews	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	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 609583 266900 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 Tags
Green Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Schizophrenia Renal cysts and diabetes syndrome delayed development, intellectual disability Autism Spectrum Disorder Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females global developmental delay 614527 RCAD syndrome Chromosome 17q12 deletion syndrome utero-vaginal atresia Tags
Green Green List (high evidence)	ITGA3	2 reviews	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	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal hypodysplasia/aplasia 1, 191830 Tags
Green Green List (high evidence)	ITSN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early childhood SSNS Tags gene-checked
Green Green List (high evidence)	KIAA0586	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib skeletal dysplasia ?Orofaciodigital syndrome XV 617127 Joubert syndrome Tags
Green Green List (high evidence)	KIF7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Acrocallosal syndrome 200990 Joubert syndrome 12 200990 Tags
Green Green List (high evidence)	KYNU	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Hydroxykynureninuria, 236800 multiple congenital malformations VACTERL-like phenotype Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism) Tags
Green Green List (high evidence)	LAGE3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 2, X-linked #301006 Tags
Green Green List (high evidence)	LAMB2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pierson syndrome 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 Tags
Green Green List (high evidence)	LMX1B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Nail-patella syndrome 161200 Tags
Green Green List (high evidence)	LRIG2	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Urofacial syndrome Urofacial syndrome 2 615112 Congenital bladder disease: dyssynergic, high pressure bladder. Tags
Green Green List (high evidence)	LZTFL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green Green List (high evidence)	MAGI2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 15 617609 Tags
Green Green List (high evidence)	MAPKBP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes NEPHRONOPHTHISIS 20 Tags
Green Green List (high evidence)	MKKS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bardet Biedl syndrome 6 236700 Tags
Green Green List (high evidence)	MKS1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 13 615990 Meckel syndrome 1 249000 Tags
Green Green List (high evidence)	MMACHC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green Green List (high evidence)	MT-TF	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green NHS GMS Phenotypes renal insufficiency Tubulointerstitial kidney disease tubulointerstitial nephritis renal failur Tags gene-checked
Green Green List (high evidence)	MUC1	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Medullary cystic kidney disease 1, 174000 Medullary cystic kidney disease 1 Tags
Green Green List (high evidence)	MYH9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Epstein syndrome 153650 Fechtner syndrome 153640 Tags
Green Green List (high evidence)	MYO1E	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 6 614131 Tags
Green Green List (high evidence)	NEK8	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 Tags
Green Green List (high evidence)	NPHP1	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 4 609583 Ciliopathy genes associated with cystic kidney disease Senior-Loken syndrome-1 266900 Nephronophthisis 1, juvenile 256100 Tags
Green Green List (high evidence)	NPHP3	7 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome 7, 267010 Renal-Hepatic-Pancreatic Dysplasia Ciliopathy genes associated with cystic kidney disease Nephronophthisis 3, 604387 Renal-hepatic-pancreatic dysplasia 1, 208540 Tags
Green Green List (high evidence)	NPHP4	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Senior-Loken syndrome 4 606996 Ciliopathy genes associated with cystic kidney disease Nephronophthisis 4 606966 Tags
Green Green List (high evidence)	NPHS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 1 256300 Tags
Green Green List (high evidence)	NPHS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 2 600995 Tags
Green Green List (high evidence)	NUP107	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 11 616730 Tags
Green Green List (high evidence)	NUP133	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 18 618177 ?Galloway-Mowat syndrome 8 618349 Tags
Green Green List (high evidence)	NUP85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 17 #618176 Tags
Green Green List (high evidence)	NUP93	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 12 616892 Tags
Green Green List (high evidence)	OCRL	4 reviews 1 green 1 red	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 Lowe syndrome, OMIM:309000 Dent disease 2, OMIM:300555 Tags
Green Green List (high evidence)	OFD1	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Joubert syndrome 10 300804 Simpson-Golabi-Behmel syndrome, type 2 300209 XLR Tags
Green Green List (high evidence)	OSGEP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 3 617729 Tags
Green Green List (high evidence)	PAX2	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Papillorenal syndrome, 120330 RENAL-COLOBOMA SYNDROME Papillorenal syndrome Glomerulosclerosis, focal segmental, 7 Glomerulosclerosis, focal segmental, 7 616002 Tags
Green Green List (high evidence)	PBX1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CAKUT Tags
Green Green List (high evidence)	PKD1	5 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, Autosomal Dominant Polycystic kidney disease 2, 613095 Tags
Green Green List (high evidence)	PKHD1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Polycystic Kidney Disease, Autosomal Recessive Polycystic kidney and hepatic disease, 263200 Autosomal Recessive Polycystic Kidney Disease Tags
Green Green List (high evidence)	PLCE1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 3 610725 Tags
Green Green List (high evidence)	PMM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green Green List (high evidence)	PODXL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Congenital nephrotic syndrome Tags gene-checked
Green Green List (high evidence)	REN	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal Tubular Dysgenesis Renal tubular dysgenesis 267430 [Hyperproreninemia] Hyperuricemic nephropathy, familial juvenile 2613092 Tags
Green Green List (high evidence)	RET	6 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Multiple endocrine neoplasia IIB, 162300 Central hypoventilation syndrome, congenital, 209880 Multiple endocrine neoplasia IIA, 171400 Renal agenesis, 191830 {Hirschsprung disease, susceptibility to, 1}, 142623 Pheochromocytoma, 171300 Renal Adysplasia Medullary thyroid carcinoma, 155240 Tags
Green Green List (high evidence)	RPGRIP1L	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Meckel syndrome 5 611561 Ciliopathy genes associated with cystic kidney disease COACH syndrome 216360 Joubert syndrome 7 611560 Tags
Green Green List (high evidence)	RRM2B	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 Tags
Green Green List (high evidence)	SALL1	5 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	2 reviews	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)	SDCCAG8	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 16 615993 Senior-Loken syndrome 7 613615 Tags
Green Green List (high evidence)	SEC61A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Hyperuricemic nephropathy, familial juvenile, 4 617056 Tags
Green Green List (high evidence)	SGPL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome 14 617575 Tags
Green Green List (high evidence)	SIX5	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 2, 610896 Tags
Green Green List (high evidence)	SLC22A12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypouricemia, renal, 220150 Tags
Green Green List (high evidence)	SLC2A9	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes {Uric acid concentration, serum, QTL 2}, 612076 Hypouricemia, renal, 2, 612076 Tags
Green Green List (high evidence)	SLC3A1	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Cystinuria 220100 Tags
Green Green List (high evidence)	SLC7A9	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Cystinuria 220100 Tags
Green Green List (high evidence)	SMARCAL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 Tags
Green Green List (high evidence)	TBC1D8B	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 Green NHS GMS Phenotypes Nephrotic syndrome, type 20, OMIM:301028 Tags gene-checked
Green Green List (high evidence)	TBX18	6 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)	TCTN1	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 13 614173 Tags
Green Green List (high evidence)	TCTN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Meckel syndrome Joubert syndrome, Meckel-Gruber syndrome Joubert syndrome 24 Tags
Green Green List (high evidence)	TCTN3	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 18 614815 Tags
Green Green List (high evidence)	TMEM107	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Joubert syndrome 29 617562 Meckel syndrome 13 617562 Orofaciodigital syndrome XVI 617563 Tags
Green Green List (high evidence)	TMEM138	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 16 614465 Tags
Green Green List (high evidence)	TMEM216	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 2 608091 Meckel syndrome 2 603194 Tags
Green Green List (high evidence)	TMEM231	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 20 614970 Meckel syndrome 11 615397 Tags
Green Green List (high evidence)	TMEM237	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Joubert syndrome 14 614424 Tags
Green Green List (high evidence)	TMEM67	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome 6 610688 Nephronophthisis 11 613550 Meckel syndrome 3 607361 Ciliopathy genes associated with cystic kidney disease {Bardet-Biedl syndrome 14, modifier of} 615991 COACH syndrome 216360 Tags
Green Green List (high evidence)	TNS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes nephrotic syndrome Tags gene-checked
Green Green List (high evidence)	TP53RK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 4 #617730 Tags
Green Green List (high evidence)	TRAF3IP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Senior-Loken syndrome 9 616629 Tags
Green Green List (high evidence)	TRAP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CAKUT VACTERL 192350 Tags gene-checked
Green Green List (high evidence)	TRIM8	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes nephrotic syndrome epilepsy Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 Tags
Green Green List (high evidence)	TRPC6	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulosclerosis, focal segmental, 2 603965 Tags
Green Green List (high evidence)	TSC1	5 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	4 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	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephronophthisis 12 613820 Ciliopathy genes associated with cystic kidney disease Tags
Green Green List (high evidence)	TTC8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease Bardet-Biedl syndrome 8 615985 Tags
Green Green List (high evidence)	TXNDC15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes MGS Meckel-Gruber syndrome Tags gene-checked
Green Green List (high evidence)	UMOD	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 Uromodulin-associated kidney disease Hyperuricemic nephropathy, familial juvenile 1 162000 Medullary cystic kidney disease 2 603860 Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000 Tags
Green Green List (high evidence)	VHL	4 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)	VIPAS39	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 Tags
Green Green List (high evidence)	VPS33B	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Arthrogryposis, renal dysfunction, and cholestasis 1 Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 Arthrogryposis, renal dysfunction, and cholestasis Tags
Green Green List (high evidence)	WDPCP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliopathy genes associated with cystic kidney disease ?Bardet-Biedl syndrome 15 615992 Tags
Green Green List (high evidence)	WDR19	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephronophthisis 13 Ciliopathy genes associated with cystic kidney disease Senior-Loken Tags
Green Green List (high evidence)	WDR35	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly Cranioectodermal dysplasia 2, 613610 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Green Green List (high evidence)	WDR60	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 SHORT-RIB POLYDACTYLY Short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome Tags new-gene-name
Green Green List (high evidence)	WDR73	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 1 #251300 Tags
Green Green List (high evidence)	WT1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 4 256370 Tags
Green Green List (high evidence)	XDH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Xanthinuria, type I, 278300 Tags
Green Green List (high evidence)	XPNPEP3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	ALG5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Polycystic kidney disease 7, OMIM:620056 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ALG8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes cystic liver disease cystic kidney disease Polycystic liver disease 3 with or without kidney cysts, 617874 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ALG9	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes cystic liver disease cystic kidney disease Gillessen-Kaesbach-Nishimura syndrome, 263210 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	AP2S1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Familial hypocalciuric hypercalcemia type III 600740 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	APOA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	APOA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	APOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	APOE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Lipoprotein glomerulopathy, OMIM:611771 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	APRT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Adenine phosphoribosyltransferase deficiency, OMIM:614723 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	AQP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Nephrogenic diabetes insipidus Diabetes insipidus, nephrogenic, 125800 Tags
Amber Amber List (moderate evidence)	ATP1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Hypomagnesemia, seizures, and mental retardation 2 618314 Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ATP6V0A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Renal tubular acidosis with deafness 267300 distal renal tubular acidosis Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	AVPR2	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 Expert Review Amber NHS GMS Phenotypes Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539 Diabetes insipidus, nephrogenic, OMIM:304800 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hypocalcemia (dominant) Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, Familial Hypocalciuric Hypercalcemia (dominant) hypocalciuric hypercalcaemia Familial Hypocalciuric Hypercalcemia Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CD151	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CFHR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Immune complex MPGN IC-MPGN C3 glomerulopathy C3G Immune-complex-mediated MPGN Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CLCNKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Tags monogenic-polygenic Q4_23_promote_green
Amber Amber List (moderate evidence)	CLDN10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes HELIX syndrome, OMIM:617671 Hypokalemic-alkalotic salt-losing tubulopathy Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CLDN16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hypomagnesemia 3, renal, OMIM: 248250 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes hypomagensemia with nephrocalcinosis Hypomagnesemia 5, renal, with ocular involvement Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hypomagnesemia, seizures, and mental retardation, OMIM:616418 renal hypomagnesemia 6, MONDO:0013480 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 Hypomagnesemia 6, renal, OMIM:613882 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CUL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type IIE, 214496 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	CYP24A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Infantile hypercalcaemia Infantile Hypercalcemia Hypercalcemia, infantile, 143880 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	DAAM2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	DLG5	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Yuksel-Vogel-Bauser syndrome, OMIM:620703 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	EMP2	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes steroid sensitive nephrotic syndrome Nephrotic syndrome, type 10 #615861 Tags
Amber Amber List (moderate evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Tyrosinemia, type I, OMIM:276700 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	FAM20A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	FGA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Amyloidosis, familial visceral, OMIM:105200 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	FLCN	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Birt-Hogg-Dube syndrome, OMIM:135150 renal cell carcinoma renal cysts pneumothorax renal oncocytoma pulmonary cysts cutaneous fibrofolliculoma Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	FN1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Glomerulopathy with fibronectin deposits 2, OMIM:601894 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	GNA11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Hypocalcemia, autosomal dominant 2 615361 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	GON7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Galloway-Mowat syndrome MONDO:0009627 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	GSN	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Amyloidosis, Finnish type, OMIM:105120 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Lesch-Nyhan syndrome, OMIM:300322 Hyperuricemia, HRPT-related, OMIM:300323 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	IFT140	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 cystic kidney disease, MONDO:0002473 short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	IFT172	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	IFT27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Bardet-Biedl syndrome 19, OMIM:615996 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes often initial transient hyperkalemia Antenatal Bartter Syndrome Bartter syndrome, type 2, 241200 Type 2 Bartter syndrome Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes SESAME/EAST syndrome, 612780 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	KCNJ16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hypokalemic tubulopathy and deafness, OMIM:619406 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	KLHL3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type IID, 614495 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	LCAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Norum disease, OMIM:245900 Norum disease, MONDO:0009515 LCAT DEFICIENCY Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	LYZ	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Amyloidosis, renal 105200 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MAGED2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Bartter syndrome, type 5, antenatal, transient, 300971 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	MOCOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Xanthinuria, type II, OMIM:603592 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	NR3C2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern Pseudohypoaldosteronism type I, autosomal dominant, 177735 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PDSS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Coenzyme Q10 deficiency, primary, 3, OMIM:614652 Leigh syndrome, MONDO:0009723 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PHEX	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 Expert Review Amber NHS GMS Phenotypes Hypophosphatemic rickets, X-linked dominant 307800 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	PRKCSH	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	RRAGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes salt wasting tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 cardiomyopathy hypomagnesaemia nephrocalcinosis Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Progressive Spastic Paresis Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SCNN1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type I, 264350 ?Liddle syndrom 3, 618126 Bronchiectasis with or without elevated sweat chloride 2 613021 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SCNN1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type I, 264350 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SCNN1G	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type I, 264350 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SEC63	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes Polycystic liver disease 2 with or without kidney cysts, OMIM:617004 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Bartter syndrome, type 1, OMIM:601678 Bartter disease type 1, MONDO:0100344 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC12A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC2A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Fanconi-Bickel syndrome, OMIM:227810 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC34A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Nephrolithiasis with osteoporosis and hypophosphatemia Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive) Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Hypophosphatemic Nephrolithiasis/Osteoporosis Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC34A3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431 HHRH Hypophosphatemic rickets with hypercalciuria, OMIM:241530 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Renal tubular acidosis, distal, AR 611590 distal renal tubular acidosis Renal tubular acidosis, distal, AD, 179800 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, 604278 Proximal Renal Tubular Acidosis with Ocular Abnormalities Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive). Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	SLC5A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Renal glucosuria, 233100 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TPRKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Galloway-Mowat syndrome 5, OMIM:617731 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hypomagnesemia 1, intestinal, 602014 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TTR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Phenotypes Amyloidosis, hereditary, transthyretin-related 105210 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	TULP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	WDR72	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes hereditary distal renal tubular acidosis distal renal tubular acidosis, MONDO:0015827 Amelogenesis imperfecta, type IIA3, OMIM:613211 amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	WNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type IIB, 614491 Tags Q4_23_promote_green
Amber Amber List (moderate evidence)	YRDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Galloway-Mowat syndrome MONDO:0009627 Tags Q4_23_promote_green
Red Red List (low evidence)	ACTA2	3 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)	ALG1	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	APOL1	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ARHGAP24	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	BICC1	4 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes {Renal dysplasia, cystic, susceptibility to}, 601331 Tags
Red Red List (low evidence)	BMP4	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CCDC28B	3 reviews	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	CD2AP	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	CHD1L	2 reviews	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)	COL4A6	1 review	Unknown	Sources Expert Review Red Phenotypes (originally on Alport syndrome gene panel) diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4) Tags
Red Red List (low evidence)	COX10	3 reviews 2 red	Unknown	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency Tags
Red Red List (low evidence)	CYP11B2	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	DACT1	2 reviews 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	1 review	Unknown	Sources Expert Review Red Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red Red List (low evidence)	DLG3	2 reviews	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	E2F3	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FOXC1	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	FOXC2	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	GDNF	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	GIF	2 reviews	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	3 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	GREM1	3 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	HCN3	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ITGB4	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	KANK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome Tags
Red Red List (low evidence)	KIT	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	MTR	1 review	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	1 review	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	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome Tags
Red Red List (low evidence)	PTPRO	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ROBO2	5 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Vesicoureteral Reflux Vesicoureteral reflux 2, 610878 Tags
Red Red List (low evidence)	SHH	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SIX1	3 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes (originally on the Imerslund-Grasbeck syndrome gene panel) Thiamine-Responsive Megaloblastic Anemia Thiamine-responsive megaloblastic anemia syndrome, 249270 Tags
Red Red List (low evidence)	SLC19A3	1 review	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	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SMARCA4	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	SOX17	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Vesicoureteral reflux 3, 613674 Tags
Red Red List (low evidence)	SPRY1	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	TNXB	2 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	TRIM32	2 reviews 1 red	Unknown	Sources Expert Review Red Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red Red List (low evidence)	TSHZ3	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	UPK2	3 reviews 2 red	Other - please specifiy in evaluation comments	Sources Expert Review Red Tags
Red Red List (low evidence)	UPK3A	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Renal Adysplasia Tags
Red Red List (low evidence)	ZMPSTE24	1 review	Unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	ZNF423	1 review	Unknown	Sources Expert Review Red Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags

Major version comments

2023-03-22 16:14 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 15:01 Arina Puzriakova (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-04 14:51 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.162) was signed off under NHS Genomic Medicine Service governance on 04/12/2019. The panel was promoted to the next major version (version 1.0) as a result of this.

Unexplained young onset end-stage renal disease (Version 3.42)

25 reviewers

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