The latest signed off version for the GMS is v12.7. The current version, shown here, may differ from the signed-off version.

Unexplained young onset end-stage renal disease (Version 12.56)

Level 2: Renal

Relevant disorders: Unexplained paediatric onset end-stage renal disease, R257
This panel contains these 11 panels:
Cystic kidney disease v8.5
Renal tubulopathies v5.11
Proteinuric renal disease v5.7
Nephrocalcinosis or nephrolithiasis v5.5
Renal ciliopathies v4.7
Tubulointerstitial kidney disease v3.15
Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8
Atypical haemolytic uraemic syndrome v3.8
Haematuria v2.17
Hereditary systemic amyloidosis v1.28
Unexplained young onset end-stage renal disease - additional genes v1.4
Panel types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off
Latest signed off version: v12.7 (30 Apr 2025)
Previously signed off versions: v7.10, v5.0, v4.0, v3.0, v2.0, v1.2

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'.

Following NHS Genomic Medicine Service approval, this panel was made a super panel in October 2024. This super panel is composed of the constituent panel(s) as defined in the link(s) above. Changes made to the constituent panel(s) will automatically be updated in the super panel.

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

This is comprised of:
- Cystic kidney disease, version 8.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/283/?version=8.0)
- Renal ciliopathies, version 4.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/725/?version=4.0)
- R194 Haematuria, version 2.15 (https://panelapp.genomicsengland.co.uk/api/v1/panels/99/?version=2.15)
- R195 Proteinuric renal disease, version 5.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/106/?version=5.0)
- R197 Membranoproliferative glomerulonephritis including C3 glomerulopathy, version 3.6 (https://panelapp.genomicsengland.co.uk/api/v1/panels/83/?version=3.6)
- R198 Renal tubulopathies, version 5.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/292/?version=5.0)
- R201 Atypical haemolytic uraemic syndrome, version 3.6 (https://panelapp.genomicsengland.co.uk/api/v1/panels/139/?version=3.6)
- R202 Tubulointerstitial kidney disease, version 3.5 (https://panelapp.genomicsengland.co.uk/api/v1/panels/548/?version=3.5)
- R204 Hereditary systemic amyloidosis, version 1.24 (https://panelapp.genomicsengland.co.uk/api/v1/panels/502/?version=1.24)
- R256 Nephrocalcinosis or nephrolithiasis, version 5.0 (https://panelapp.genomicsengland.co.uk/api/v1/panels/149/?version=5.0)
- Unexplained young onset end-stage renal disease - additional genes, version 1.1 (https://panelapp.genomicsengland.co.uk/api/v1/panels/1537/?version=1.1)

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

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

541 Entities

539 reviewed, 347 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 541 Entitiess
Green List (high evidence)	ACE Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal tubular dysgenesis, OMIM:267430 Tags
Green List (high evidence)	ACTG2 Unexplained young onset end-stage renal disease - additional genes v1.4	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431 Visceral myopathy 1, OMIM:155310 Berdon syndrome Tags
Green List (high evidence)	ACTN4 Proteinuric renal disease v5.7	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Glomerulosclerosis, focal segmental, 1 603278 Tags
Green List (high evidence)	AGT Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal tubular dysgenesis, OMIM:267430 Tags
Green List (high evidence)	AGTR1 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal tubular dysgenesis, OMIM:267430 Tags
Green List (high evidence)	AGXT Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Phenotypes Primary Hyperoxaluria Type 1 Primary Hyperoxaluria Hyperoxaluria, primary, type 1, 259900 Hyperoxaluria primary hyperoxaluria Tags
Green List (high evidence)	AHI1 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 3 Joubert syndrome Joubert syndrome-3. Tags
Green List (high evidence)	ALG5 Cystic kidney disease v8.5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Polycystic kidney disease 7, OMIM:620056 Tags
Green List (high evidence)	ALG8 Cystic kidney disease v8.5	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes cystic liver disease cystic kidney disease Polycystic liver disease 3 with or without kidney cysts, 617874 Tags
Green List (high evidence)	ALG9 Cystic kidney disease v8.5	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes cystic liver disease cystic kidney disease Gillessen-Kaesbach-Nishimura syndrome, 263210 Tags
Green List (high evidence)	ALMS1 Renal ciliopathies v4.7	6 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Eligibility statement prior genetic testing UKGTN Expert list Phenotypes Bardet-Biedl Syndrome Alstrom syndrome, OMIM:203800 Tags
Green List (high evidence)	AMN Proteinuric renal disease v5.7	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Norwegian type, OMIM:261100 Tags
Green List (high evidence)	ANKS6 Tubulointerstitial kidney disease v3.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 16 MIM 615382 Tags
Green List (high evidence)	ANKS6 Cystic kidney disease v8.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 16, OMIM:615382 Tags
Green List (high evidence)	ANKS6 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Nephronophthisis 16, OMIM:615382 Tags
Green List (high evidence)	ANOS1 Unexplained young onset end-stage renal disease - additional genes v1.4	8 reviews 3 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), OMIM:308700 Tags
Green List (high evidence)	AP2S1 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Familial hypocalciuric hypercalcemia type III 600740 Tags
Green List (high evidence)	APOA1 Hereditary systemic amyloidosis v1.28	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Amyloidosis, 3 or more types OMIM:105200 familial visceral amyloidosis MONDO:0007099 Tags
Green List (high evidence)	APOA2 Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Tags
Green List (high evidence)	APOC2 Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Tags missense
Green List (high evidence)	APOE Proteinuric renal disease v5.7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lipoprotein glomerulopathy, OMIM:611771 Tags
Green List (high evidence)	APRT Nephrocalcinosis or nephrolithiasis v5.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Adenine phosphoribosyltransferase deficiency 614723 Tags
Green List (high evidence)	AQP2 Renal tubulopathies v5.11	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Diabetes insipidus, nephrogenic, 125800 Nephrogenic diabetes insipidus Tags treatable
Green List (high evidence)	ARHGDIA Proteinuric renal disease v5.7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 8 #615224 Tags
Green List (high evidence)	ARL13B Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 8 Tags
Green List (high evidence)	ARL6 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes {Bardet Biedl syndrome 1, modifier of} Bardet-Biedl Syndrome 268000 Bardet Biedl syndrome 3 Tags
Green List (high evidence)	ARMC9 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome 30, OMIM:617622 Tags
Green List (high evidence)	ATP1A1 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hypomagnesemia, seizures, and mental retardation 2 618314 Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 Tags
Green List (high evidence)	ATP6V0A4 Nephrocalcinosis or nephrolithiasis v5.5	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 Tags
Green List (high evidence)	ATP6V0A4 Renal tubulopathies v5.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 Tags
Green List (high evidence)	ATP6V1B1 Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, OMIM:267300 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss, MONDO:0009968 Tags
Green List (high evidence)	ATP6V1B1 Renal tubulopathies v5.11	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Renal tubular acidosis with deafness, 267300 Distal Renal Tubular Acidosis with Progressive Nerve Deafness Distal renal tubular acidosis Tags
Green List (high evidence)	AVPR2 Renal tubulopathies v5.11	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Other Phenotypes Diabetes insipidus, nephrogenic, OMIM:304800 Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539 Tags Skewed X-inactivation treatable
Green List (high evidence)	B9D2 Renal ciliopathies v4.7	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Joubert syndrome 34, OMIM:614175 Meckel syndrome 10, OMIM:614175 Meckel syndrome, type 10, MONDO:0013609 Tags
Green List (high evidence)	BBS1 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green List (high evidence)	BBS10 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 10 Tags
Green List (high evidence)	BBS12 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 12 Tags
Green List (high evidence)	BBS2 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 2 Tags
Green List (high evidence)	BBS4 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 4 Tags
Green List (high evidence)	BBS5 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 5 Tags
Green List (high evidence)	BBS7 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 7 Tags
Green List (high evidence)	BBS9 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 9 Tags
Green List (high evidence)	BNC2 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Other Expert Review Green Phenotypes Lower urinary tract obstruction, congenital, OMIM:618612 Tags
Green List (high evidence)	BSND Renal tubulopathies v5.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Hypokalaemic alkalosis with hypercalciuria Bartter syndrome type 4a Sensorineural deafness with mild renal dysfunction MIM 602522 Tags
Green List (high evidence)	BSND Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Bartter Syndrome Bartter syndrome, type 4a, 602522 Sensorineural deafness with mild renal dysfunction, 602522 Tags
Green List (high evidence)	C3 Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	6 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925 C3 glomerulopathy C3G Tags
Green List (high evidence)	C3 Atypical haemolytic uraemic syndrome v3.8	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925 Tags
Green List (high evidence)	C3 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C3 deficiency, OMIM:613779 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925 Tags
Green List (high evidence)	C5orf42 Renal ciliopathies v4.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Oral-facial-digital syndrome type VI Joubert syndrome 17 Tags new-gene-name
Green List (high evidence)	CA2 Renal tubulopathies v5.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 Osteopetrosis with Renal Tubular Acidosis Tags
Green List (high evidence)	CA2 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Tags
Green List (high evidence)	CASR Renal tubulopathies v5.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198 Hypocalciuric hypercalcemia, type I, 145980 Hyperparathyroidism, neonatal, 239200 Tags
Green List (high evidence)	CASR Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Familial Hypocalciuric Hypercalcemia Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, Hypocalcemia (dominant) Familial Hypocalciuric Hypercalcemia (dominant) hypocalciuric hypercalcaemia Tags
Green List (high evidence)	CC2D2A Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 9 COACH syndrome Joubert syndrome with oculorenal defect Meckel syndrome 6 Meckel syndrome Tags
Green List (high evidence)	CD151 Proteinuric renal disease v5.7	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Eligibility statement prior genetic testing Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190 Tags
Green List (high evidence)	CD46 Atypical haemolytic uraemic syndrome v3.8	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 Tags
Green List (high evidence)	CENPF Renal ciliopathies v4.7	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen Phenotypes Stromme syndrome, OMIM:243605 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Tags
Green List (high evidence)	CEP104 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Other Phenotypes Joubert syndrome 25, 616781 Joubert syndrome 25 Tags
Green List (high evidence)	CEP164 Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green List (high evidence)	CEP164 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes ciliopathies Nephronophthisis 15 Senior-Loken syndrome Nephronophthisis 15, 614845 Tags
Green List (high evidence)	CEP164 Tubulointerstitial kidney disease v3.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 15 MIM 614845 Tags
Green List (high evidence)	CEP290 Renal ciliopathies v4.7	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes 610189 Meckel syndrome 4 Senior-Loken syndrome 611755 Joubert syndrome 5 Joubert syndrome with oculorenal defect 610188 Senior-Loken syndrome 6 611134 Meckel syndrome Tags
Green List (high evidence)	CEP41 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 15 Tags
Green List (high evidence)	CEP83 Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes NEPHRONOPHTHISIS 18 Tags
Green List (high evidence)	CEP83 Tubulointerstitial kidney disease v3.15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 18 MIM 615862 Tags
Green List (high evidence)	CEP83 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Nephronophthisis 18 615862 Tags
Green List (high evidence)	CFB Atypical haemolytic uraemic syndrome v3.8	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924 Tags
Green List (high evidence)	CFB Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	7 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes Haemolytic uraemic syndrome aHUS Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924 C3 glomerulopathy C3G Immune complex MPGN IC-MPGN MPGN Membranoproliferative glomerulonephritis Tags
Green List (high evidence)	CFH Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400 Dense Deposit Disease Membranoproliferative Glomerulonephritis Type II Immune-complex-mediated MPGN Tags
Green List (high evidence)	CFH Atypical haemolytic uraemic syndrome v3.8	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400 Tags
Green List (high evidence)	CFHR1 Atypical haemolytic uraemic syndrome v3.8	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to 235400 Tags
Green List (high evidence)	CFHR1 Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Hemolytic uremic syndrome, atypical, susceptibility to, 235400 Immune-complex-mediated MPGN Tags currently-ngs-unreportable
Green List (high evidence)	CFHR2 Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Immune-complex-mediated MPGN Tags currently-ngs-unreportable gene-checked
Green List (high evidence)	CFHR3 Atypical haemolytic uraemic syndrome v3.8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature UKGTN Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to 235400 Tags
Green List (high evidence)	CFHR5 Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	7 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Nephropathy due to CFHR5 deficiency, OMIM:614809 Immune-complex-mediated MPGN CFHR5 nephropathy Haematuria Chronic Kidney Disease Proteinuria End stage renal disease Tags currently-ngs-unreportable
Green List (high evidence)	CFI Atypical haemolytic uraemic syndrome v3.8	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923 Complement factor I deficiency, OMIM:610984 Tags
Green List (high evidence)	CFI Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	7 reviews 2 green 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Immune-complex-mediated MPGN Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923 Tags
Green List (high evidence)	CHD7 Unexplained young onset end-stage renal disease - additional genes v1.4	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes CHARGE syndrome, OMIM:214800 Tags
Green List (high evidence)	CHRM3 Unexplained young onset end-stage renal disease - additional genes v1.4	7 reviews 3 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 List (high evidence)	CLCN5 Proteinuric renal disease v5.7	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 NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Dent disease, 300009 Nephrolithiasis, type I, 310468 Hypophosphatemic rickets, 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Tags
Green List (high evidence)	CLCN5 Renal tubulopathies v5.11	3 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 NHS GMS Phenotypes Dent disease 1, OMIM:300009 Tags
Green List (high evidence)	CLCN5 Cystic kidney disease v8.5	3 reviews 3 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 Literature Phenotypes Dent disease 1, OMIM:300009 Hypophosphatemic rickets, OMIM:300554 Nephrolithiasis, type I, OMIM:310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990 Tags
Green List (high evidence)	CLCN5 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Dent Disease Dent disease, 300009 Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD Tags
Green List (high evidence)	CLCNKB Renal tubulopathies v5.11	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags monogenic-polygenic
Green List (high evidence)	CLCNKB Nephrocalcinosis or nephrolithiasis v5.5	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bartter syndrome, type 3, OMIM:607364 Bartter disease type 3, MONDO:0011822 Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags monogenic-polygenic
Green List (high evidence)	CLDN10 Renal tubulopathies v5.11	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypokalemic-alkalotic salt-losing tubulopathy HELIX syndrome, OMIM:617671 Tags
Green List (high evidence)	CLDN16 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypomagnesemia 3, renal 248250 Tags
Green List (high evidence)	CLDN16 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Hypomagnesemia 3, renal, OMIM:248250 Tags
Green List (high evidence)	CLDN19 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes hypomagensemia with nephrocalcinosis Hypomagnesemia 5, renal, with ocular involvement Tags
Green List (high evidence)	CLDN19 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypomagnesemia 5, renal, with ocular involvement, 248190 Tags
Green List (high evidence)	CNNM2 Renal tubulopathies v5.11	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Hypomagnesemia 6, renal, OMIM:613882 Hypomagnesemia, seizures, and mental retardation, OMIM:616418 renal hypomagnesemia 6, MONDO:0013480 Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 Tags
Green List (high evidence)	COL4A1 Haematuria v2.17	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Review Phenotypes Exophytic renal cysts haematuria Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773 Tags
Green List (high evidence)	COL4A1 Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Exophytic renal cysts raised creatinine kinase tortuous retinal vessels intracranial anuerysms haematuria Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 Tags
Green List (high evidence)	COL4A3 Proteinuric renal disease v5.7	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Alport syndrome, autosomal dominant #104200 Alport syndrome, autosomal recessive #203780 Hematuria, benign familial #141200 Tags
Green List (high evidence)	COL4A3 Haematuria v2.17	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Alport syndrome, autosomal dominant OMIM:104200 Alport syndrome, autosomal recessive OMIM:203780 Hematuria, benign familial OMIM:141200 Tags
Green List (high evidence)	COL4A4 Haematuria v2.17	4 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Alport syndrome 2, autosomal recessive OMIM:203780 Hematuria, familial benign OMIM:141200 Tags
Green List (high evidence)	COL4A4 Proteinuric renal disease v5.7	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 Tags
Green List (high evidence)	COL4A5 Proteinuric renal disease v5.7	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Alports Familial benign haematuria Alport syndrome proteinuria haematuria FSGS Tags
Green List (high evidence)	COL4A5 Haematuria v2.17	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Radboud University Medical Center, Nijmegen Phenotypes Alport syndrome 1, X-linked OMIM:301050 Tags
Green List (high evidence)	COQ2 Proteinuric renal disease v5.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Coenzyme Q10 deficiency, primary, 1, OMIM:607426 Tags
Green List (high evidence)	COQ6 Proteinuric renal disease v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Coenzyme Q10 deficiency, primary, 6 #614650 Tags
Green List (high evidence)	COQ8B Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 9 #615573 Tags
Green List (high evidence)	CRB2 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ventriculomegaly with cystic kidney disease 219730 Tags
Green List (high evidence)	CRB2 Proteinuric renal disease v5.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes steroid resistant nephrotic syndrome Focal segmental glomerulosclerosis 9 #616220 Ventriculomegaly with cystic kidney disease #219730 Tags
Green List (high evidence)	CSPP1 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome Meckel syndrome Joubert syndrome 21 Meckel-Gruber syndrome Tags
Green List (high evidence)	CTNS Renal tubulopathies v5.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS UKGTN Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert Review Radboud University Medical Center, Nijmegen Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Cystinosis, ocular nonnephropathic 219750 Tags
Green List (high evidence)	CUBN Proteinuric renal disease v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Finnish type, 261100 Megaloblastic Anemia (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Green List (high evidence)	CUL3 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type IIE, 214496 Tags
Green List (high evidence)	CYP24A1 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypercalcemia, infantile, 1 143880 Tags
Green List (high evidence)	CYP24A1 Cystic kidney disease v8.5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Hypercalcemia, infantile, 1, OMIM:143880 hypercalcemia, infantile, 1, MONDO:0020739 Tags Q1_26_MOI
Green List (high evidence)	CYP24A1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Infantile Hypercalcemia Hypercalcemia, infantile, 143880 Infantile hypercalcaemia Tags
Green List (high evidence)	DAAM2 Proteinuric renal disease v5.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765 Tags
Green List (high evidence)	DDX59 Renal ciliopathies v4.7	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Expert Review Green Phenotypes Orofaciodigital syndrome V, 174300 Tags
Green List (high evidence)	DGKE Proteinuric renal disease v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 7, OMIM:615008 Tags
Green List (high evidence)	DGKE Atypical haemolytic uraemic syndrome v3.8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008 Tags
Green List (high evidence)	DGKE Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Haemolytic uraemic syndrome aHUS Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008 Nephrotic syndrome, type 7, 615008 C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Tags
Green List (high evidence)	DHCR7 Renal ciliopathies v4.7	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Smith-Lemli-Opitz syndrome, OMIM:270400 Tags
Green List (high evidence)	DLC1 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Childhood and adult SSNS and SRNS Tags
Green List (high evidence)	DLG5 Renal ciliopathies v4.7	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Yuksel-Vogel-Bauser syndrome, OMIM:620703 Tags Q2_25_ MOI Q2_25_ NHS_review
Green List (high evidence)	DNAJB11 Cystic kidney disease v8.5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes cystic kidney disease end stage renal failure non-enlarged kidney Polycystic kidney disease Tubulointerstitial kidney disease Tags
Green List (high evidence)	DNAJB11 Tubulointerstitial kidney disease v3.15	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061 Tubulointerstitial disease Tags
Green List (high evidence)	DSTYK Unexplained young onset end-stage renal disease - additional genes v1.4	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Congenital anomalies of kidney and urinary tract 1, OMIM:610805 Tags
Green List (high evidence)	DYNC2H1 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 Tags
Green List (high evidence)	DZIP1L Cystic kidney disease v8.5	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Polycystic kidney disease 5, OMIM:617610 polycystic kidney disease 5, MONDO_0033281 Tags
Green List (high evidence)	EYA1 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650 Tags
Green List (high evidence)	FAH Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Emory Genetics Laboratory Expert Review Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Tyrosinemia, type I 276700 Tags
Green List (high evidence)	FAM20A Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690 Tags
Green List (high evidence)	FAN1 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Interstitial nephritis, karyomegalic, OMIM:614817 karyomegalic interstitial nephritis, MONDO:0013898 chronic kidney disease Tags
Green List (high evidence)	FAT1 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glomerulotubular nephropathy Tags gene-checked
Green List (high evidence)	FGA Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Amyloidosis, familial visceral, OMIM:105200 Tags
Green List (high evidence)	FLCN Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Birt-Hogg-Dube syndrome, OMIM:135150 renal cysts cutaneous fibrofolliculoma pneumothorax pulmonary cysts renal cell carcinoma renal oncocytoma Tags
Green List (high evidence)	FN1 Proteinuric renal disease v5.7	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Glomerulopathy with fibronectin deposits 2, OMIM:601894 Tags
Green List (high evidence)	FRAS1 Unexplained young onset end-stage renal disease - additional genes v1.4	7 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome 1, OMIM:219000 Tags
Green List (high evidence)	FREM1 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bifid nose with or without anorectal and renal anomalies, OMIM:608980 Tags
Green List (high evidence)	FREM2 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome 2, OMIM:617666 Tags
Green List (high evidence)	GANAB Cystic kidney disease v8.5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Mild cystic kidney and liver disease Polycyctic kidney disease 3 Tags
Green List (high evidence)	GATA3 Unexplained young onset end-stage renal disease - additional genes v1.4	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255 Tags
Green List (high evidence)	GATM Tubulointerstitial kidney disease v3.15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Fanconi renotubular syndrome 1, OMIM:134600 Tags
Green List (high evidence)	GATM Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Fanconi renotubular syndrome 1, OMIM:134600 Tags
Green List (high evidence)	GLA Cystic kidney disease v8.5	5 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Expert Phenotypes Fabry disease, OMIM:301500 Fabry disease, MONDO:0010526 Renal cyst, HP:0000107 renal parapelvic cysts Tags
Green List (high evidence)	GLA Proteinuric renal disease v5.7	3 reviews 3 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 Fabry disease 301500 Tags
Green List (high evidence)	GLI3 Unexplained young onset end-stage renal disease - additional genes v1.4	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Pallister-Hall syndrome, OMIM:146510 Tags
Green List (high evidence)	GLIS2 Renal ciliopathies v4.7	5 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Nephronophthisis 7, OMIM:611498 Tags
Green List (high evidence)	GNA11 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant 2 615361 Tags
Green List (high evidence)	GON7 Proteinuric renal disease v5.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome MONDO:0009627 Tags founder-effect
Green List (high evidence)	GRHPR Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Primary Hyperoxaluria Primary Hyperoxaluria Type 2 Hyperoxaluria, primary, type II, 260000 Hyperoxaluria Tags
Green List (high evidence)	GRIP1 Unexplained young onset end-stage renal disease - additional genes v1.4	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fraser syndrome 3, OMIM:617667 Tags
Green List (high evidence)	GSN Hereditary systemic amyloidosis v1.28	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Amyloidosis, Finnish type, OMIM:105120 Tags
Green List (high evidence)	HAAO Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660 Tags
Green List (high evidence)	HNF1B Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Literature Phenotypes Renal cysts and diabetes syndrome Tags
Green List (high evidence)	HNF1B Tubulointerstitial kidney disease v3.15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Renal cysts and diabetes syndrome MIM 137920 NIDDM MIM 125853 Tags
Green List (high evidence)	HNF1B Renal ciliopathies v4.7	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Green List (high evidence)	HNF1B Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Renal cysts and diabetes syndrome, 137920 Diabetes mellitus, noninsulin-dependent, 125853 Tags
Green List (high evidence)	HNF4A Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 Tags
Green List (high evidence)	HNF4A Renal tubulopathies v5.11	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 Tags
Green List (high evidence)	HOGA1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Primary Hyperoxaluria Hyperoxaluria, primary, type III, 613616 Hyperoxaluria Tags
Green List (high evidence)	HPRT1 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Phenotypes Hyperuricemia, HRPT-related, OMIM:300323 Lesch-Nyhan syndrome, OMIM:300322 Tags
Green List (high evidence)	HPSE2 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Urofacial syndrome 1, OMIM:236730 Congenital bladder disease: dyssynergic, high pressure bladder Tags
Green List (high evidence)	HYLS1 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Joubert syndrome Hydrolethalus syndrome, 236680 Tags
Green List (high evidence)	ICK Renal ciliopathies v4.7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Endocrine-cerebroosteodysplasia, OMIM:612651 Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 Tags new-gene-name watchlist
Green List (high evidence)	IFT122 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Cranioectodermal dysplasia Cranioectodermal dysplasia 1, 218330 Tags
Green List (high evidence)	IFT140 Renal ciliopathies v4.7	6 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 cystic kidney disease, MONDO:0002473 {Polycystic kidney disease 9, susceptibility to}, OMIM:621164 Tags
Green List (high evidence)	IFT140 Cystic kidney disease v8.5	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Research Literature Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920 short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 cystic kidney disease, MONDO:0002473 {Polycystic kidney disease 9, susceptibility to}, OMIM:621164 Tags
Green List (high evidence)	IFT172 Renal ciliopathies v4.7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 Tags
Green List (high evidence)	IFT27 Renal ciliopathies v4.7	6 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bardet-Biedl syndrome 19, OMIM:615996 Tags
Green List (high evidence)	IFT43 Renal ciliopathies v4.7	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Expert Review Green Phenotypes Cranioectodermal dysplasia 3, 614099 Sensenbrenner syndrome Short-rib thoracic dysplasia 18 with polydactyly, 617866 Tags
Green List (high evidence)	INF2 Proteinuric renal disease v5.7	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Glomerulosclerosis, focal segmental, 5 #613237 Adult onset nephrotic syndrome (+CMT) FSGS proteinuria renal failure Tags
Green List (high evidence)	INPP5E Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Joubert syndrome 1 Tags
Green List (high evidence)	INVS Tubulointerstitial kidney disease v3.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 2, infantile MIM 602088 Tags
Green List (high evidence)	INVS Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Senior-Loken syndrome Nephronophthisis 2, infantile, 602088 Nephronophthisis Tags
Green List (high evidence)	INVS Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green List (high evidence)	IQCB1 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Senior-Loken syndrome 5, 609254 Senior-Loken syndrome Tags
Green List (high evidence)	11p13 (WAGR syndrome) region Loss ISCA-37401-Loss Region Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 Tags
Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region Cystic kidney disease v8.5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities 266900 609583 Tags
Green List (high evidence)	2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss Region Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ClinGen Phenotypes 609583 juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities 266900 Tags
Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region Cystic kidney disease v8.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes RCAD syndrome utero-vaginal atresia Schizophrenia 614527 delayed development, intellectual disability Renal cysts and diabetes syndrome Autism Spectrum Disorder Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females Chromosome 17q12 deletion syndrome global developmental delay Tags
Green List (high evidence)	17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss Region Renal ciliopathies v4.7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green ClinGen Phenotypes Schizophrenia Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females delayed development, intellectual disability 614527 RCAD syndrome utero-vaginal atresia Chromosome 17q12 deletion syndrome Autism Spectrum Disorder global developmental delay Renal cysts and diabetes syndrome Tags
Green List (high evidence)	ITGA3 Proteinuric renal disease v5.7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748 Tags
Green List (high evidence)	ITGA8 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Renal hypodysplasia/aplasia 1, OMIM:191830 Tags
Green List (high evidence)	ITSN1 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Early childhood SSNS Tags gene-checked
Green List (high evidence)	KCNJ1 Renal tubulopathies v5.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Hypokalaemic alkalosis with hypercalciuria Type 2 Bartter syndrome often initial transient hyperkalemia Bartter syndrome, type 2, 241200 Tags
Green List (high evidence)	KCNJ1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Antenatal Bartter Syndrome Bartter syndrome, type 2, 241200 Type 2 Bartter syndrome often initial transient hyperkalemia Tags
Green List (high evidence)	KCNJ10 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes SESAME/EAST syndrome, 612780 Tags
Green List (high evidence)	KCNJ16 Renal tubulopathies v5.11	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Hypokalemic tubulopathy and deafness, OMIM:619406 Tags
Green List (high evidence)	KIAA0586 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome 23 Joubert syndrome Short-rib thoracic dysplasia 14 with polydactyly Short-rib dysplasia 14 with polydactyly Tags
Green List (high evidence)	KIAA0753 Renal ciliopathies v4.7	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes ?Orofaciodigital syndrome XV 617127 Joubert syndrome Short-rib skeletal dysplasia Tags
Green List (high evidence)	KIF7 Renal ciliopathies v4.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 12 200990 Acrocallosal syndrome 200990 Tags
Green List (high evidence)	KLHL3 Renal tubulopathies v5.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type IID, 614495 Tags
Green List (high evidence)	KYNU Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661 Tags
Green List (high evidence)	LAGE3 Proteinuric renal disease v5.7	1 review 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, OMIM:301006 Tags
Green List (high evidence)	LAMB2 Proteinuric renal disease v5.7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities #614199 Pierson syndrome #609049 Tags
Green List (high evidence)	LCAT Proteinuric renal disease v5.7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Phenotypes Norum disease, OMIM:245900 Norum disease, MONDO:0009515 LCAT DEFICIENCY Tags
Green List (high evidence)	LMX1B Proteinuric renal disease v5.7	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nail-patella syndrome #161200 FSGS proteinuria kidney failure isolated glomerulopathy Tags
Green List (high evidence)	LRIG2 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Urofacial syndrome 2, OMIM:615112 Congenital bladder disease: dyssynergic, high pressure bladder Tags
Green List (high evidence)	LYZ Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Amyloidosis, renal 105200 Tags
Green List (high evidence)	LZTFL1 Renal ciliopathies v4.7	4 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Expert Review Green Phenotypes Bardet-Biedl syndrome 17, 615994 Tags
Green List (high evidence)	MAGED2 Renal tubulopathies v5.11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Bartter syndrome, type 5, antenatal, transient, OMIM:300971 Tags
Green List (high evidence)	MAGI2 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 15 617609 Tags
Green List (high evidence)	MAPKBP1 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephronophthisis 20 617271 Tags
Green List (high evidence)	MAPKBP1 Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes NEPHRONOPHTHISIS 20 Tags
Green List (high evidence)	MAPKBP1 Tubulointerstitial kidney disease v3.15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 20 MIM 6175271 Tags
Green List (high evidence)	MKKS Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 6 236700 Tags
Green List (high evidence)	MKS1 Renal ciliopathies v4.7	5 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes occipital encephalocele Joubert syndrome Bardet-Biedl syndrome Joubert syndrome 28 249000 polydactyly polycystic kidneys Meckel-Gruber syndrome Meckel syndrome renal fibrosis Tags
Green List (high evidence)	MMACHC Atypical haemolytic uraemic syndrome v3.8	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 Tags
Green List (high evidence)	MOCOS Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Xanthinuria, type II, OMIM:603592 Tags
Green List (high evidence)	MT-TF Tubulointerstitial kidney disease v3.15	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes Tubulointerstitial kidney disease tubulointerstitial nephritis renal insufficiency renal failure Tags gene-checked locus-type-rna-transfer
Green List (high evidence)	MUC1 Tubulointerstitial kidney disease v3.15	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Medullary cystic kidney disease 1 MIM 174000 Tags
Green List (high evidence)	MYH9 Proteinuric renal disease v5.7	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Epstein syndrome #153650 Fechtner syndrome #153640 Tags
Green List (high evidence)	MYH9 Haematuria v2.17	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 Tags
Green List (high evidence)	MYO1E Proteinuric renal disease v5.7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Glomerulosclerosis, focal segmental, 6 #614131 Tags
Green List (high evidence)	NEK8 Cystic kidney disease v8.5	6 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Phenotypes Polycystic kidney disease 8, OMIM:620903 polycystic kidney disease, MONDO:0020642 ?Nephronophthisis 9, OMIM:613824 Tags
Green List (high evidence)	NEK8 Renal ciliopathies v4.7	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Expert Review Green Phenotypes Renal-hepatic-pancreatic dysplasia ?Renal-hepatic-pancreatic dysplasia 2, 615415 Nephronophthisis ?Nephronophthisis 9, 613824 Tags
Green List (high evidence)	NOS1AP Proteinuric renal disease v5.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Nephrotic syndrome, type 22, OMIM:619155 Tags
Green List (high evidence)	NOS1AP Unexplained young onset end-stage renal disease - additional genes v1.4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Nephrotic syndrome, type 22, OMIM:619155 Tags
Green List (high evidence)	NPHP1 Tubulointerstitial kidney disease v3.15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Joubert syndrome 4 MIM 609583 Senior-Loken syndrome-1 MIM 266900 Nephronopthisis 1, juvenile MIM 256100 Tags
Green List (high evidence)	NPHP1 Renal ciliopathies v4.7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 4 Senior-Loken syndrome 256100 Senior-Loken syndrome-1, 266900 609583 Nephronophthisis 1, juvenile Nephronophthisis Tags
Green List (high evidence)	NPHP1 Cystic kidney disease v8.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green List (high evidence)	NPHP3 Tubulointerstitial kidney disease v3.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Renal-hepatic-pancreatic dysplasia 1, MIM 208540 Meckel syndrome 7, MIM 267010 Nephronopthisis 3 MIM 604387 Tags
Green List (high evidence)	NPHP3 Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green List (high evidence)	NPHP3 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Renal-hepatic-pancreatic dysplasia Senior-Loken syndrome Nephronophthisis 3, 604387 Meckel syndrome 7, 267010 Renal-hepatic-pancreatic dysplasia 1, 208540 Nephronophthisis Tags
Green List (high evidence)	NPHP4 Tubulointerstitial kidney disease v3.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Senior-Loken syndrome 4 MIM 606996 Nephronopthisis 4 MIM 606966 Tags
Green List (high evidence)	NPHP4 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes Senior-Loken syndrome Nephronophthisis Senior-Loken syndrome 4, 606996 Nephronophthisis 4, 606966 Tags
Green List (high evidence)	NPHP4 Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green List (high evidence)	NPHS1 Proteinuric renal disease v5.7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 1 #602716 Tags
Green List (high evidence)	NPHS2 Proteinuric renal disease v5.7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 2 #600995 Tags
Green List (high evidence)	NR3C2 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism type I, autosomal dominant, 177735 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern Tags
Green List (high evidence)	NUP107 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 11 #616730 Tags
Green List (high evidence)	NUP133 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Galloway-Mowat syndrome 8 618349 Nephrotic syndrome, type 18 618177 Tags
Green List (high evidence)	NUP85 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 17 #618176 Tags
Green List (high evidence)	NUP93 Proteinuric renal disease v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome Nephrotic syndrome, type 12 #616892 Tags
Green List (high evidence)	OCRL Renal tubulopathies v5.11	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes Dent disease 2, OMIM:300555 Tags
Green List (high evidence)	OCRL Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Phenotypes Lowe syndrome, OMIM:309000 Dent disease 2, OMIM:300555 As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome Tags
Green List (high evidence)	OCRL Proteinuric renal disease v5.7	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 Green NHS GMS Phenotypes Lowe syndrome, OMIM:309000 Dent disease 2, OMIM:300555 Tags
Green List (high evidence)	OFD1 Renal ciliopathies v4.7	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome 10 X-linked Joubert syndrome Orofaciodigital syndrome I Tags
Green List (high evidence)	OSGEP Proteinuric renal disease v5.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 3 617729 Tags
Green List (high evidence)	PAX2 Cystic kidney disease v8.5	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Papillorenal syndrome, OMIM:120330 renal coloboma syndrome, MONDO:0007352 Tags
Green List (high evidence)	PAX2 Proteinuric renal disease v5.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Glomerulosclerosis, focal segmental, 7 #616002 Tags
Green List (high evidence)	PBX1 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641 Tags
Green List (high evidence)	PDSS2 Proteinuric renal disease v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Eligibility statement prior genetic testing Phenotypes Coenzyme Q10 deficiency, primary, 3 #614652 Leigh syndrome Tags
Green List (high evidence)	PHEX Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Expert list Phenotypes Hypophosphatemic rickets, X-linked dominant 307800 Tags
Green List (high evidence)	PKD1 Cystic kidney disease v8.5	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Radboud University Medical Center, Nijmegen Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD) Tags
Green List (high evidence)	PKD1 Renal ciliopathies v4.7	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Polycystic kidney disease, adult type I, 173900 Autosomal recessive polycystic kidney disease (ARPKD) Autosomal dominant polycystic kidney disease (ADPKD) Tags
Green List (high evidence)	PKD2 Renal ciliopathies v4.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic kidney disease 2, 613095 Tags
Green List (high evidence)	PKD2 Cystic kidney disease v8.5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Expert Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Polycystic Kidney Disease, Autosomal Dominant Polycystic kidney disease 2, 613095 Autosomal Dominant Polycystic Kidney Disease Tags
Green List (high evidence)	PKHD1 Cystic kidney disease v8.5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 Tags
Green List (high evidence)	PKHD1 Renal ciliopathies v4.7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 Tags
Green List (high evidence)	PLCE1 Proteinuric renal disease v5.7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 3 #610725 Congenital nephrotic syndrome/SRNS Tags
Green List (high evidence)	PMM2 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia 212065 Tags
Green List (high evidence)	PODXL Proteinuric renal disease v5.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Congenital nephrotic syndrome Tags gene-checked
Green List (high evidence)	PRDM15 Unexplained young onset end-stage renal disease - additional genes v1.4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes steroid-resistant nephrotic syndrome, MONDO:0044765 Tags gene-checked
Green List (high evidence)	PRDM15 Proteinuric renal disease v5.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes steroid-resistant nephrotic syndrome, MONDO:0044765 Tags gene-checked
Green List (high evidence)	PRKCSH Cystic kidney disease v8.5	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Phenotypes Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 Tags
Green List (high evidence)	PSKH1 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Cholestasis, progressive familial intrahepatic, 13, OMIM:620962 Tags
Green List (high evidence)	REN Renal tubulopathies v5.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hyperuricemic nephropathy, familial juvenile 2, 613092 Renal tubular dysgenesis 267430 AR Tags
Green List (high evidence)	REN Tubulointerstitial kidney disease v3.15	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Renal tubular dysgenesis MIM 267430 Familial juvenile Hyperuricemic nephropathy-2 MIM 613092 Tags
Green List (high evidence)	RET Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes {Hirschsprung disease, susceptibility to, 1}, OMIM:142623 Multiple endocrine neoplasia IIA, OMIM:171400 Multiple endocrine neoplasia IIB, OMIM:162300 Pheochromocytoma, OMIM:171300 Tags
Green List (high evidence)	RMND1 Renal tubulopathies v5.11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 tubulopathy renal tubular acidosis interstitial nephritis end-stage renal disease tubular atrophy Tags
Green List (high evidence)	RMND1 Unexplained young onset end-stage renal disease - additional genes v1.4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature NHS GMS Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 11, OMIM:614922 Tags
Green List (high evidence)	RPGRIP1L Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome 7 Meckel syndrome 5 Joubert syndrome Meckel syndrome Meckel-Gruber syndrome Tags
Green List (high evidence)	RRAGD Renal tubulopathies v5.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes hypomagnesaemia cardiomyopathy tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Tags
Green List (high evidence)	RRAGD Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Other Phenotypes hypomagnesaemia nephrocalcinosis salt wasting cardiomyopathy tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Tags
Green List (high evidence)	RRM2B Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075 Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315 Tags
Green List (high evidence)	SALL1 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Townes-Brocks branchiootorenal-like syndrome, OMIM:107480 Townes-Brocks syndrome 1, OMIM:107480 Tags
Green List (high evidence)	SARS2 Renal tubulopathies v5.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845 Progressive Spastic Paresis Tags
Green List (high evidence)	SCARB2 Proteinuric renal disease v5.7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Action myoclonus renal failure syndrome Epilepsy, progressive myoclonic 4, with or without renal failure #254900 Tags
Green List (high evidence)	SCNN1A Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type I, 264350 ?Liddle syndrom 3, 618126 Bronchiectasis with or without elevated sweat chloride 2 613021 Tags
Green List (high evidence)	SCNN1B Renal tubulopathies v5.11	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Eligibility statement prior genetic testing Phenotypes Pseudohypoaldosteronism, type I, 264350 Tags
Green List (high evidence)	SCNN1G Renal tubulopathies v5.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type I, 264350 Tags
Green List (high evidence)	SDCCAG8 Renal ciliopathies v4.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Phenotypes SENIOR-LOKEN SYNDROME Bardet-Biedl Syndrome 613615 Senior-Loken syndrome Tags
Green List (high evidence)	SEC61A1 Tubulointerstitial kidney disease v3.15	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056 Tags
Green List (high evidence)	SEC61A1 Renal tubulopathies v5.11	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature Phenotypes hyporeninaemic hypoaldosteronism autosomal dominant tubulointerstitial kidney disease Tags
Green List (high evidence)	SEC63 Cystic kidney disease v8.5	5 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert Phenotypes Polycystic liver disease 2 with or without kidney cysts, OMIM:617004 Tags
Green List (high evidence)	SGPL1 Proteinuric renal disease v5.7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Nephrotic syndrome 14 617575 Tags
Green List (high evidence)	SIX5 Unexplained young onset end-stage renal disease - additional genes v1.4	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Branchiootorenal syndrome 2, OMIM:610896 Tags disputed Q3_25_demote_red Q3_25_expert_review
Green List (high evidence)	SLC12A1 Renal tubulopathies v5.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Bartter syndrome, type 1, OMIM:601678 Bartter disease type 1, MONDO:0100344 Tags monogenic-polygenic
Green List (high evidence)	SLC12A1 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Bartter syndrome, type 1, OMIM:601678 Bartter disease type 1, MONDO:0100344 Tags monogenic-polygenic
Green List (high evidence)	SLC12A3 Renal tubulopathies v5.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green List (high evidence)	SLC22A12 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Hypouricemia, renal, 220150 Tags
Green List (high evidence)	SLC22A12 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypouricemia, renal, 220150 Tags
Green List (high evidence)	SLC2A2 Renal tubulopathies v5.11	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Fanconi-Bickel syndrome, OMIM:227810 Tags
Green List (high evidence)	SLC2A9 Renal tubulopathies v5.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypouricemia, renal, 2, 612076 {Uric acid concentration, serum, QTL 2}, 612076 Tags
Green List (high evidence)	SLC2A9 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Hypouricemia, renal, 2, 612076 Tags
Green List (high evidence)	SLC34A1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Hypophosphatemic Nephrolithiasis/Osteoporosis Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive) Nephrolithiasis with osteoporosis and hypophosphatemia Nephrolithiasis with osteoporosis and hypophosphatemia Tags
Green List (high evidence)	SLC34A3 Nephrocalcinosis or nephrolithiasis v5.5	5 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hypophosphatemic rickets with hypercalciuria, OMIM:241530 HHRH hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431 Tags
Green List (high evidence)	SLC3A1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes Cystinuria 220100 Tags
Green List (high evidence)	SLC4A1 Renal tubulopathies v5.11	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Distal Renal Tubular Acidosis, Dominant Ovalocytosis Distal renal tubular acidosis Renal tubular acidosis, distal, AD,179800 Renal tubular acidosis, distal, AR, 611590 Cryohydrocytosis, 185020 Ovalocystois, SA type 166900 Spherocytoisis type 4, 612653 various blood group associations. Tags
Green List (high evidence)	SLC4A1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes distal renal tubular acidosis Renal tubular acidosis, distal, AD, 179800 Renal tubular acidosis, distal, AR 611590 Tags
Green List (high evidence)	SLC4A4 Renal tubulopathies v5.11	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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
Green List (high evidence)	SLC5A2 Renal tubulopathies v5.11	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Renal glucosuria, 233100 Tags
Green List (high evidence)	SLC7A9 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Phenotypes Cystinuria 220100 Tags
Green List (high evidence)	SMARCAL1 Proteinuric renal disease v5.7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 Tags
Green List (high evidence)	STRADA Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 Tags
Green List (high evidence)	TBC1D8B Proteinuric renal disease v5.7	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 20, OMIM:301028 Tags gene-checked
Green List (high evidence)	TBX18 Unexplained young onset end-stage renal disease - additional genes v1.4	7 reviews 3 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Congenital anomalies of kidney and urinary tract 2, OMIM:143400 Tags
Green List (high evidence)	TCTN1 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome Tags
Green List (high evidence)	TCTN2 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Meckel syndrome Joubert syndrome 24 Joubert syndrome, Meckel-Gruber syndrome Tags
Green List (high evidence)	TCTN3 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Orofaciodigital syndrome IV Joubert syndrome 18 Meckel-Gruber Mohr-Majewski syndrome Tags
Green List (high evidence)	TMEM107 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Meckel syndrome 13 617562 ?Joubert syndrome 29 617562 Orofaciodigital syndrome XVI 617563 Tags
Green List (high evidence)	TMEM138 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome with oculorenal defect Joubert syndrome 16 Tags
Green List (high evidence)	TMEM216 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome: Meckel-Gruber syndrome Joubert syndrome with oculorenal defect Meckel syndrome Joubert syndrome 2 Tags
Green List (high evidence)	TMEM231 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen Expert list Other Emory Genetics Laboratory Phenotypes Meckel syndrome Joubert syndrome 20 Joubert syndrome with oculorenal defect Joubert syndrome 20, 614970 Meckel syndrome 11, 615397 Tags
Green List (high evidence)	TMEM237 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Expert Review Green Expert list Other Phenotypes Joubert syndrome Joubert syndrome with oculorenal defect Joubert syndrome 14 Tags
Green List (high evidence)	TMEM67 Renal ciliopathies v4.7	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Orphanet Eligibility statement prior genetic testing Expert list Expert Review Green Other Phenotypes Joubert syndrome nephronophthisis COACH syndrome Joubert syndrome 6 ?Bardet-Biedl syndrome? Senior-Boichis syndrome 613550 607361 Meckel-Gruber syndrome Meckel syndrome 610688 Nephronophthisis 11 216360 Tags
Green List (high evidence)	TMEM67 Cystic kidney disease v8.5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Green List (high evidence)	TMEM67 Tubulointerstitial kidney disease v3.15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes ?RHYNS syndrome MIM 602152 COACH syndrome 216360 AR 3 {Bardet-Biedl syndrome 14, modifier of} MIM 615991 ?RHYNS syndrome 602152 AR 3 COACH syndrome, MIM 216306 Joubert syndrome 6, MIM 610688 Nephronopthisis 11 MIM 613550 Meckel syndrome 3, MIM 607361 Tags
Green List (high evidence)	TNS2 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes nephrotic syndrome Tags gene-checked
Green List (high evidence)	TP53RK Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 4 #617730 Tags
Green List (high evidence)	TPRKB Proteinuric renal disease v5.7	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 5, OMIM:617731 Tags
Green List (high evidence)	TRAF3IP1 Renal ciliopathies v4.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Phenotypes Senior-Loken syndrome 9 616629 Tags
Green List (high evidence)	TRAP1 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes CAKUT VATER/VACTERL ASSOCIATION, OMIM:192350 Tags gene-checked
Green List (high evidence)	TRIM8 Proteinuric renal disease v5.7	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 List (high evidence)	TRPC6 Proteinuric renal disease v5.7	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Glomerulosclerosis, focal segmental, 2 #603652 Proteinuria FSGS kidney failure Familial and sporadic SRNS (adult) Tags
Green List (high evidence)	TRPM6 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes Hypomagnesemia 1, intestinal, 602014 Tags
Green List (high evidence)	TSC1 Cystic kidney disease v8.5	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Tags
Green List (high evidence)	TSC2 Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Tags
Green List (high evidence)	TTC21B Cystic kidney disease v8.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags watchlist_moi
Green List (high evidence)	TTC21B Tubulointerstitial kidney disease v3.15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 12, OMIM:613820 Tags
Green List (high evidence)	TTC21B Renal ciliopathies v4.7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Nephronophthisis 12, 613820 Short-rib thoracic dysplasia 4 with or without polydactyly Jeune syndrome Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 Nephronophthisis Tags watchlist_moi
Green List (high evidence)	TTC8 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Phenotypes Bardet Biedl syndrome 8 Tags
Green List (high evidence)	TTR Hereditary systemic amyloidosis v1.28	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Amyloidosis, hereditary, transthyretin-related 105210 Tags treatable
Green List (high evidence)	TULP3 Cystic kidney disease v8.5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags
Green List (high evidence)	TXNDC15 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Meckel syndrome 14, OMIM:619879 Tags gene-checked
Green List (high evidence)	UMOD Tubulointerstitial kidney disease v3.15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Phenotypes Medullary cystic kidney disease 2 MIM 603860 Familial juvenile hyperuricemic nephropathy 1 MIM 162000 Tags
Green List (high evidence)	UMOD Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Hyperuricemic nephropathy, familial juvenile 1, 162000 Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 Medullary cystic kidney disease 2, 603860 Tags
Green List (high evidence)	UMOD Cystic kidney disease v8.5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes Medullary Cystic Kidney Disease 2 Hyperuricemic nephropathy, familial juvenile 1, 162000 Tags
Green List (high evidence)	VHL Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Tags
Green List (high evidence)	VIPAS39 Renal tubulopathies v5.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 Tags
Green List (high evidence)	VIPAS39 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 Tags
Green List (high evidence)	VPS33B Nephrocalcinosis or nephrolithiasis v5.5	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 Tags
Green List (high evidence)	VPS33B Renal tubulopathies v5.11	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 Tags
Green List (high evidence)	WDPCP Renal ciliopathies v4.7	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Emory Genetics Laboratory Phenotypes ?Bardet-Biedl syndrome 15, 615992 Meckel syndrome ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green List (high evidence)	WDR19 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Nephronophthisis 13, 614377 ?Short-rib thoracic dysplasia 5 with or without polydactyly Senior-Loken syndrome 8, 616307 Cranioectodermal dysplasia ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 Jeune syndrome Senior-Loken syndrome ?Cranioectodermal dysplasia 4, 614378 Nephronophthisis Tags
Green List (high evidence)	WDR19 Cystic kidney disease v8.5	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Nephronophthisis 13, Senior-Loken Tags
Green List (high evidence)	WDR19 Tubulointerstitial kidney disease v3.15	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nephronopthisis 13 MIM 614377 ?Cranioectodermal dysplasia 4, MIM 614378 ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376 Senior-Loken syndrome 8, MIM 616307 Tags
Green List (high evidence)	WDR35 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Emory Genetics Laboratory Phenotypes Cranioectodermal dysplasia 2, 613610 Cranioectodermal dysplasia Short-rib thoracic dysplasia 7 with or without polydactyly Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 Tags
Green List (high evidence)	WDR60 Renal ciliopathies v4.7	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Expert Review Green Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 Short-rib thoracic dysplasia 8 with or without polydactyly Jeune syndrome SHORT-RIB POLYDACTYLY Tags new-gene-name
Green List (high evidence)	WDR72 Renal tubulopathies v5.11	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes distal RTA 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
Green List (high evidence)	WDR72 Unexplained young onset end-stage renal disease - additional genes v1.4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review NHS GMS Expert Review Green Phenotypes distal renal tubular acidosis, MONDO:0015827 Amelogenesis imperfecta, type IIA3, OMIM:613211 amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 Tags
Green List (high evidence)	WDR72 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert list Phenotypes distal renal tubular acidosis, MONDO:0015827 Amelogenesis imperfecta, type IIA3, OMIM:613211 amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 Tags
Green List (high evidence)	WDR73 Proteinuric renal disease v5.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 1 #251300 Tags
Green List (high evidence)	WNK4 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type IIB, 614491 Tags
Green List (high evidence)	WT1 Proteinuric renal disease v5.7	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Denys-Drash syndrome #194080 Frasier syndrome #136680 Wilms tumor, type 1 #194070 Tags
Green List (high evidence)	XDH Nephrocalcinosis or nephrolithiasis v5.5	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Phenotypes Xanthinuria, type I, 278300 Tags
Green List (high evidence)	XPNPEP3 Renal ciliopathies v4.7	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Illumina TruGenome Clinical Sequencing Services Orphanet Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green List (high evidence)	XPNPEP3 Cystic kidney disease v8.5	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green List (high evidence)	XPNPEP3 Tubulointerstitial kidney disease v3.15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephronophthisis-like nephropathy 1 OMIM:613159 nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Green List (high evidence)	YRDC Proteinuric renal disease v5.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome MONDO:0009627 Tags
Amber List (moderate evidence)	ADAMTS13 Atypical haemolytic uraemic syndrome v3.8	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 Tags
Amber List (moderate evidence)	ADAMTS9 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Nephronophthisis-Related Ciliopathy Tags
Amber List (moderate evidence)	ADAMTS9 Tubulointerstitial kidney disease v3.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Nephronophthisis-Related Ciliopathy (no OMIM number yet) Tags
Amber List (moderate evidence)	ANLN Proteinuric renal disease v5.7	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Literature Phenotypes Focal segmental glomerulosclerosis 8 616032 Tags
Amber List (moderate evidence)	APOA4 Tubulointerstitial kidney disease v3.15	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106 tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	APOA4 Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106 tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234 AApoAIV amyloidosis, MONDO:0018589 Tags Q4_25_promote_green
Amber List (moderate evidence)	APOC3 Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Tags
Amber List (moderate evidence)	APOL1 Proteinuric renal disease v5.7	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Eligibility statement prior genetic testing Phenotypes {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551 {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551 Tags
Amber List (moderate evidence)	B2M Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes ?Amyloidosis, familial visceral 105200 Tags
Amber List (moderate evidence)	BBIP1 Renal ciliopathies v4.7	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Bardet-Biedl syndrome 18, 615995 Tags
Amber List (moderate evidence)	CD2AP Proteinuric renal disease v5.7	5 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Eligibility statement prior genetic testing Phenotypes Glomerulosclerosis, focal segmental, 3, OMIM:607832 focal segmental glomerulosclerosis 3, susceptibility to, MONDO:0011917 Tags Q3_25_promote_green
Amber List (moderate evidence)	CEP290 Cystic kidney disease v8.5	4 reviews 2 green	Not set	Sources Expert Review Amber Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Amber List (moderate evidence)	CEP55 Renal ciliopathies v4.7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Meckel-like syndrome autosomal recessive lethal ciliopathy renal dysplasia Tags
Amber List (moderate evidence)	CFAP47 Cystic kidney disease v8.5	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes polycystic kidney disease, MONDO:0020642 Tags Q4_24_promote_green
Amber List (moderate evidence)	CFHR5 Atypical haemolytic uraemic syndrome v3.8	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Nephropathy due to CFHR5 deficiency, MIM# 614809 Tags
Amber List (moderate evidence)	CFHR5 Haematuria v2.17	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert Review Literature Phenotypes Nephropathy due to CFHR5 deficiency OMIM:614809 Tags
Amber List (moderate evidence)	COL4A3 Cystic kidney disease v8.5	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Research Phenotypes cystic kidney disease proteinuria haematuria Tags watchlist
Amber List (moderate evidence)	COL4A4 Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Cystic kidney disease, MONDO:0002473 Tags
Amber List (moderate evidence)	CST3 Hereditary systemic amyloidosis v1.28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Cerebral amyloid angiopathy 105150 Tags
Amber List (moderate evidence)	CYS1 Cystic kidney disease v8.5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Polycystic kidney disease, MONDO:0020642 Tags watchlist
Amber List (moderate evidence)	CYS1 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polycystic kidney disease, MONDO:0020642 Tags watchlist
Amber List (moderate evidence)	DCDC2 Tubulointerstitial kidney disease v3.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Sclerosing cholangitis, neonatal MIM 617394 ?Deafness, autosomal recessive 66 MIM 610212 Nephronopthisis 19 MIM 616217 Tags
Amber List (moderate evidence)	DCDC2 Renal ciliopathies v4.7	7 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Orphanet Expert list Radboud University Medical Center, Nijmegen Phenotypes Neonatal sclerosing cholangitis Nephronophthisis 19, 616217 Tags
Amber List (moderate evidence)	EHHADH Renal tubulopathies v5.11	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert Phenotypes ?Fanconi renotubular syndrome 3, OMIM:615605 L-bifunctional protein deficiency Metabolic acidosis Increased amino acids in urine Tags
Amber List (moderate evidence)	EMP2 Proteinuric renal disease v5.7	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes steroid sensitive nephrotic syndrome Nephrotic syndrome, type 10 #615861 Tags
Amber List (moderate evidence)	ERCC1 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes hepatorenal syndrome, MONDO:0001382 Tags Q3_25_promote_green
Amber List (moderate evidence)	FOXI1 Renal tubulopathies v5.11	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Literature Expert Review Phenotypes deafness renal tubular acidosis Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number) Enlarged vestibular aqueducts, 6007910 Tags
Amber List (moderate evidence)	FXYD2 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Hypomagnesemia 2, renal, 154020 Tags
Amber List (moderate evidence)	GLIS2 Tubulointerstitial kidney disease v3.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Nephronopthisis 7 MIM 611498 Tags
Amber List (moderate evidence)	GNAS Renal tubulopathies v5.11	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Amber NHS GMS Phenotypes Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities. Tags
Amber List (moderate evidence)	JAG1 Tubulointerstitial kidney disease v3.15	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Autosomal dominant tubulointerstitial kidney disease Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	KANK2 Proteinuric renal disease v5.7	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Literature Phenotypes Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome Nephrotic syndrome 16 #617783 Tags
Amber List (moderate evidence)	KAT2B Proteinuric renal disease v5.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes steroid-resistant nephrotic syndrome, MONDO:0044765 Tags
Amber List (moderate evidence)	KIF14 Renal ciliopathies v4.7	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Orphanet Expert list Radboud University Medical Center, Nijmegen Other Phenotypes Meckel syndrome 12, OMIM:616258 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 Tags watchlist
Amber List (moderate evidence)	KIRREL1 Proteinuric renal disease v5.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765 Tags
Amber List (moderate evidence)	LAMA5 Proteinuric renal disease v5.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Nephrotic syndrome Tags
Amber List (moderate evidence)	NEK1 Renal ciliopathies v4.7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags watchlist
Amber List (moderate evidence)	NLRP3 Hereditary systemic amyloidosis v1.28	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis Tags
Amber List (moderate evidence)	OFD1 Cystic kidney disease v8.5	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 Amber Expert Tags
Amber List (moderate evidence)	PDIA6 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes Tags
Amber List (moderate evidence)	PTPRO Proteinuric renal disease v5.7	4 reviews 1 green	Not set	Sources Expert Review Amber NHS GMS Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 6 #614196 Tags
Amber List (moderate evidence)	RCAN1 Proteinuric renal disease v5.7	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes focal segmental glomerulosclerosis, MONDO:0100313 nephrotic syndrome, MONDO:0005377 Tags
Amber List (moderate evidence)	SCLT1 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Orofaciodigital syndrome type IX Senior-Loken syndrome Tags
Amber List (moderate evidence)	SEC61A1 Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Expert Review Phenotypes glomerulocystic kidney disease interstitial nephritis chronic kidney disease cystic kidney disease Hyperuricemic nephropathy, familial juvenile, 4, 617056 Tags
Amber List (moderate evidence)	SLC9A3R1 Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert Radboud University Medical Center, Nijmegen Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 Tags new-gene-name
Amber List (moderate evidence)	VIPAS39 Proteinuric renal disease v5.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 Tags Q1_25_ promote_green
Amber List (moderate evidence)	WNK1 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type IIC, OMIM:614492 Tags
Amber List (moderate evidence)	ZNF423 Cystic kidney disease v8.5	3 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Amber List (moderate evidence)	ZNF423 Tubulointerstitial kidney disease v3.15	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Amber List (moderate evidence)	ZNF423 Renal ciliopathies v4.7	5 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Orphanet Radboud University Medical Center, Nijmegen Expert Review Amber Expert list Other Emory Genetics Laboratory Phenotypes Joubert syndrome 19, OMIM:614844 Nephronophthisis 14, OMIM:614844 Tags
Red List (low evidence)	ABCG2 Renal tubulopathies v5.11	1 review 1 red	Unknown	Sources NHS GMS Phenotypes Serum uric acid concentration and susceptibility to gout, 138900 Tags
Red List (low evidence)	ACTA2 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Smooth muscle dysfunction syndrome, OMIM:613834 Tags
Red List (low evidence)	ADCY10 Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Tags
Red List (low evidence)	AGK Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 2 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hyperoxaluria, primary, type 1, 259900 Tags
Red List (low evidence)	AHI1 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	ALG1 Proteinuric renal disease v5.7	3 reviews	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Congenital disorder of glycosylation, type Ik #608540 Tags
Red List (low evidence)	ALMS1 Proteinuric renal disease v5.7	3 reviews	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Alstrom Syndrome #203800 Tags
Red List (low evidence)	ANKFY1 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Tags
Red List (low evidence)	AP2S1 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, familial, type III, 600740 Familial hypocalciuric hypercalcemia type III Tags
Red List (low evidence)	ARHGAP24 Proteinuric renal disease v5.7	3 reviews 1 red	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Focal segmental glomerulosclerosis Tags
Red List (low evidence)	ARL13B Cystic kidney disease v8.5	2 reviews 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	ARL6 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	ARMC9 Renal ciliopathies v4.7	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Joubert syndrome 30, OMIM:617622 Tags
Red List (low evidence)	B9D1 Renal ciliopathies v4.7	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Expert Review Red Emory Genetics Laboratory Phenotypes Meckel syndrome 9, OMIM:614209 Meckel syndrome 9, MONDO:0013630 Joubert syndrome 27, OMIM:617120 Joubert syndrome 27, MONDO:0014927 Tags
Red List (low evidence)	BBS1 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BBS10 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BBS12 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BBS2 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BBS4 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BBS5 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BBS9 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	BICC1 Unexplained young onset end-stage renal disease - additional genes v1.4	5 reviews 4 red	Unknown	Sources Expert Review Red Phenotypes {Renal dysplasia, cystic, susceptibility to}, OMIM:601331 Tags
Red List (low evidence)	BMP4 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Phenotypes Microphthalmia, syndromic 6, OMIM:607932 Tags
Red List (low evidence)	C5orf42 Cystic kidney disease v8.5	3 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags new-gene-name
Red List (low evidence)	C8orf37 Renal ciliopathies v4.7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Bardet-Biedl syndrome 21, 617406 Tags new-gene-name
Red List (low evidence)	CC2D2A Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	CCDC28B Renal ciliopathies v4.7	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Expert Review Red Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes ciliopathies {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red List (low evidence)	CCDC28B Cystic kidney disease v8.5	2 reviews	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	CD46 Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.8	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Haemolytic uraemic syndrome aHUS Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922 C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Tags
Red List (low evidence)	CDK20 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes Chronic kidney disease Tags
Red List (low evidence)	CEP41 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	CFHR4 Atypical haemolytic uraemic syndrome v3.8	2 reviews 2 red	Unknown	Sources Other Phenotypes Age related macular degeneration Atypical hemolytic uremic syndrome susceptibility Tags
Red List (low evidence)	CHD1L Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes congenital anomaly of kidney and urinary tract, MONDO:0019719 Tags
Red List (low evidence)	CLCNKA Renal tubulopathies v5.11	2 reviews	Other	Sources Expert Review Red NHS GMS Phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags polygenic
Red List (low evidence)	CLCNKA Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 red	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Bartter syndrome, type 4b, digenic, OMIM:613090 Bartter disease type 4B, MONDO:0000909 Tags polygenic
Red List (low evidence)	COL4A1 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773 Tags
Red List (low evidence)	COL4A5 Cystic kidney disease v8.5	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red Other Phenotypes cystic kidney disease MONDO:0002473 Tags
Red List (low evidence)	COL4A6 Haematuria v2.17	3 reviews	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 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) Tags
Red List (low evidence)	COQ7 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes ?Coenzyme Q10 deficiency, primary, 8 #616733 Tags
Red List (low evidence)	COQ9 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes Coenzyme Q10 deficiency, primary, 5 #614654 Tags
Red List (low evidence)	COX10 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 3 red	Unknown	Sources Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 Tags
Red List (low evidence)	CYP11B2 Proteinuric renal disease v5.7	3 reviews 1 red	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency #203400 Hypoaldosteronism, congenital, due to CMO II deficiency #610600 Tags
Red List (low evidence)	DACT1 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Townes-Brocks syndrome 2, OMIM:617466 Tags
Red List (low evidence)	DHFR Proteinuric renal disease v5.7	2 reviews 2 red	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red List (low evidence)	DKC1 Proteinuric renal disease v5.7	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes steroid-resistant 6 nephrotic syndrome cataracts (prior to steroid treatment) sensorineural deafness enterocolitis Tags
Red List (low evidence)	DLG3 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 1 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	E2F3 Proteinuric renal disease v5.7	3 reviews 2 red	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes FSGS mental retardation Tags
Red List (low evidence)	EGF Renal tubulopathies v5.11	1 review 1 red	Not set	Sources NHS GMS Phenotypes Hypomagnesemia 4, renal, 611718 Tags
Red List (low evidence)	EXOC3L2 Renal ciliopathies v4.7	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Red Expert list Phenotypes Brain malformation renal syndrome, OMIM:620943 Tags
Red List (low evidence)	EXOC8 Renal ciliopathies v4.7	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes No OMIM phenotype Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) Tags
Red List (low evidence)	FGF23 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Tags watchlist
Red List (low evidence)	FOXC1 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	FOXC2 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	GAPVD1 Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Tags
Red List (low evidence)	GDNF Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	GIF Proteinuric renal disease v5.7	3 reviews 2 red	Not set	Sources NHS GMS Expert Review Red Imerslund-Grasbeck syndrome eligibility statement prior genetic testing Phenotypes GIF mutations may phenocopy this disorder (originally on the Imerslund-Grasbeck syndrome gene panel) Tags new-gene-name
Red List (low evidence)	GLIS2 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	GNA11 Nephrocalcinosis or nephrolithiasis v5.5	1 review 1 red	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type II, 145981 Tags
Red List (low evidence)	GREM1 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	HCN3 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	IFT74 Renal ciliopathies v4.7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes ?Bardet-Biedl syndrome 20, 617119 Tags
Red List (low evidence)	IL1RAP Proteinuric renal disease v5.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Steroid-sensitive nephrotic syndrome Tags
Red List (low evidence)	INF2 Atypical haemolytic uraemic syndrome v3.8	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, 614455 Glomerulosclerosis, focal segmental, 5, 613237 Tags
Red List (low evidence)	INPP5E Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	IQCB1 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	ITGB4 Proteinuric renal disease v5.7	3 reviews	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis #226730 Tags
Red List (low evidence)	ITSN2 Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Early childhood SSNS Tags
Red List (low evidence)	KANK1 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes Steroid sensitive resistant nephrotic syndrome Tags
Red List (low evidence)	KANK4 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Tags
Red List (low evidence)	KCNA1 Renal tubulopathies v5.11	1 review 1 red	Not set	Sources NHS GMS Phenotypes Autosomal dominant hypomagnesemia Episodic ataxia/myokymia syndrome,160120 Tags
Red List (low evidence)	KIAA0556 Renal ciliopathies v4.7	5 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Joubert syndrome 26, OMIM:616784 Joubert syndrome 26, MONDO:0014771 Tags new-gene-name
Red List (low evidence)	KIF7 Cystic kidney disease v8.5	1 review 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	KIT Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	LMNA Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Partial lipodystrophy and FSGS Tags
Red List (low evidence)	MAFB Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes FSGS with Duane retraction syndrome Tags
Red List (low evidence)	MED28 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Tags
Red List (low evidence)	MEFV Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Familial Mediterranean fever, AD, OMIM:134610 Familial Mediterranean fever, AR, OMIM:249100 Tags
Red List (low evidence)	MKS1 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	MTR Proteinuric renal disease v5.7	2 reviews 1 red	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen 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 List (low evidence)	MTRR Proteinuric renal disease v5.7	2 reviews 1 red	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red List (low evidence)	MUC1 Renal ciliopathies v4.7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red List (low evidence)	MUC1 Cystic kidney disease v8.5	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert Radboud University Medical Center, Nijmegen Phenotypes Medullary cystic kidney disease 1, 174000 Tags
Red List (low evidence)	MYH11 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351 Tags
Red List (low evidence)	NEIL1 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes SRNS Tags
Red List (low evidence)	NEK8 Tubulointerstitial kidney disease v3.15	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes ?Nephronopthisis 9 MIM 613824 Tags
Red List (low evidence)	NEU1 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes SRNS Tags
Red List (low evidence)	NLRP3 Proteinuric renal disease v5.7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis Tags
Red List (low evidence)	NOP10 Proteinuric renal disease v5.7	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant 6 nephrotic syndrome cataracts (prior to steroid treatment) sensorineural deafness enterocolitis Tags
Red List (low evidence)	NPHP4 Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Nephronophthisis 4 #606966 Tags
Red List (low evidence)	NPHS2 Haematuria v2.17	4 reviews 2 red	Not set	Sources NHS GMS Expert Review Red UKGTN Phenotypes Hematuria, Benign Familial Alport Syndrome, X-Linked Alport Syndrome, Autosomal Recessive Alport Syndrome, Autosomal Dominant Nephrotic Syndrome, Type 2 ?Modifier of COL4A variants Tags
Red List (low evidence)	NUP160 Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes ?Nephrotic syndrome, type 19 #618178 Tags
Red List (low evidence)	NUP205 Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes ?Nephrotic syndrome, type 13 #616893 Tags
Red List (low evidence)	NXF5 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes FSGS heart-block disorder Tags
Red List (low evidence)	PDE6D Renal ciliopathies v4.7	5 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Radboud University Medical Center, Nijmegen Other UKGTN Phenotypes ?Joubert syndrome 22 Joubert Syndrome and Senior-Loken Syndrome 24 gene panel ?Joubert syndrome 22, 615665 Tags
Red List (low evidence)	PIBF1 Renal ciliopathies v4.7	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Literature Research Phenotypes Joubert syndrome ataxia vermis hypoplasia developmental delay thick superior cerebellar peduncles superior cerebellar dysplasia Tags
Red List (low evidence)	PMM2 Proteinuric renal disease v5.7	3 reviews	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Congenital disorder of glycosylation, type Ia #212065 Tags
Red List (low evidence)	ROBO2 Unexplained young onset end-stage renal disease - additional genes v1.4	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Vesicoureteral reflux 2, OMIM:610878 Tags
Red List (low evidence)	RPGRIP1L Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	SDCCAG8 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	SEC63 Renal ciliopathies v4.7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red List (low evidence)	SHH Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SIX1 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Branchiootic syndrome 3, OMIM:608389 Deafness, autosomal dominant 23, OMIM:605192 Tags
Red List (low evidence)	SLC19A2 Proteinuric renal disease v5.7	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Thiamine-Responsive Megaloblastic Anemia Thiamine-responsive megaloblastic anemia syndrome, 249270 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red List (low evidence)	SLC19A3 Proteinuric renal disease v5.7	2 reviews 2 red	Not set	Sources NHS GMS Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) #607483 (originally on the Imerslund-Grasbeck syndrome gene panel) Tags
Red List (low evidence)	SLC26A1 Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrolithiasis, calcium oxalate, MIM#167030 Tags
Red List (low evidence)	SLC26A6 Nephrocalcinosis or nephrolithiasis v5.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Enteric hyperoxaluria and nephrolithiasis Tags watchlist
Red List (low evidence)	SLC34A1 Renal tubulopathies v5.11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Hypercalcemia, infantile, 2, MIM 616963 Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 ?Fanconi renotubular syndrome 2 613388 Tags
Red List (low evidence)	SLC34A3 Renal tubulopathies v5.11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes Hypophosphatemic rickets with hypercalciuria, 241530 Tags
Red List (low evidence)	SLC36A2 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Tags
Red List (low evidence)	SLC41A1 Renal ciliopathies v4.7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephronophthisis Tags
Red List (low evidence)	SLC6A19 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Tags
Red List (low evidence)	SLC6A20 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Tags
Red List (low evidence)	SLC9A3 Nephrocalcinosis or nephrolithiasis v5.5	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Tags
Red List (low evidence)	SLC9A3R1 Renal tubulopathies v5.11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 Tags new-gene-name
Red List (low evidence)	SLIT2 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SMARCA4 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SOX17 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Phenotypes Vesicoureteral reflux 3, OMIM:613674 Tags
Red List (low evidence)	SPRY1 Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	SYNPO Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Focal segmental glomerulosclerosis FSGS Tags
Red List (low evidence)	TCTN1 Cystic kidney disease v8.5	2 reviews	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	TCTN3 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	THBD Atypical haemolytic uraemic syndrome v3.8	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 Thrombophilia due to thrombomodulin defect 614486 Tags multifactorial
Red List (low evidence)	TMEM138 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	TMEM216 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	TMEM231 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	TMEM237 Cystic kidney disease v8.5	2 reviews 1 green	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	TNXB Unexplained young onset end-stage renal disease - additional genes v1.4	3 reviews 2 red	Unknown	Sources Expert Review Red Tags
Red List (low evidence)	TRIM32 Renal ciliopathies v4.7	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Expert Review Red Expert list Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes ?Bardet-Biedl syndrome 11, 615988 Muscular dystrophy, limb-girdle, type 2H, 254110 Tags
Red List (low evidence)	TRIM32 Cystic kidney disease v8.5	1 review 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	TRPM6 Nephrocalcinosis or nephrolithiasis v5.5	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Hypomagnesemia with Secondary Hypocalcemia Tags
Red List (low evidence)	TSHZ3 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red List (low evidence)	TTC21B Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Nephronophthisis 12 # 613820 Tags
Red List (low evidence)	TTC8 Cystic kidney disease v8.5	1 review 1 red	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	UMOD Renal ciliopathies v4.7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Emory Genetics Laboratory UKGTN Phenotypes Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel Tags
Red List (low evidence)	UPK2 Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 3 red	Other	Sources Expert Review Red Tags
Red List (low evidence)	UPK3A Unexplained young onset end-stage renal disease - additional genes v1.4	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Renal Adysplasia Tags
Red List (low evidence)	VDR Nephrocalcinosis or nephrolithiasis v5.5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Tags
Red List (low evidence)	VPS33B Proteinuric renal disease v5.7	1 review	Not set	Sources NHS GMS Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 Tags
Red List (low evidence)	VTN Atypical haemolytic uraemic syndrome v3.8	2 reviews 1 red	Unknown	Sources NHS GMS Phenotypes Atypical haemolytic uraemic syndrome aHUS Tags
Red List (low evidence)	WDPCP Cystic kidney disease v8.5	1 review	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease Tags
Red List (low evidence)	XPO5 Proteinuric renal disease v5.7	1 review 1 red	Not set	Sources NHS GMS Phenotypes Nephrotic syndrome Tags
Red List (low evidence)	XPR1 Renal tubulopathies v5.11	2 reviews 1 red	Unknown	Sources Expert Review Red Expert Review Literature Phenotypes Fanconi syndrome hypophosphatamia Tags
Red List (low evidence)	ZMPSTE24 Proteinuric renal disease v5.7	3 reviews	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Mandibuloacral dysplasia with type B lipodystrophy #608612 Tags
Red List (low evidence)	ZNF365 Nephrocalcinosis or nephrolithiasis v5.5	4 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Expert Phenotypes Possible cause of uric acid stones {Nephrolithiasis, uric acid, susceptibility to} Tags

Major version comments

2024-08-07 16:10 Arina Puzriakova (Genomics England Curator) promoted panel to 5.0
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 (5.0) following this.

2024-05-01 12:48 Eleanor Williams (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

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 12.56)

541 Entities

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