Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AP2S1 gene AP2S1 Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypocalciuric hypercalcemia type III 600740 23222959 False 3 100;0;0 5.11 False ENSG00000042753 ENSG00000042753 HGNC:565 AQP2 gene AQP2 Expert Review Green;NHS GMS;Other Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, 125800;Nephrogenic diabetes insipidus 8140421;7524315;9048343;9649557;9302264;9745427;11929850;12050236;15509592 False 3 100;0;0 5.11 False ENSG00000167580 ENSG00000167580 HGNC:634 ATP1A1 gene ATP1A1 Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomagnesemia, seizures, and mental retardation 2 618314;Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 30388404 False 3 100;0;0 5.11 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP6V0A4 gene ATP6V0A4 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 27274828;32123165;23729491;25572248;26208211;26571219;27247958;28233610;29202719;29725771;30230413;30256676;31348261;31929293;32613277;33881640;34159584 False 3 100;0;0 5.11 True ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal tubular acidosis with deafness, 267300;Distal Renal Tubular Acidosis with Progressive Nerve Deafness;Distal renal tubular acidosis False 3 100;0;0 5.11 True ENSG00000116039 ENSG00000116039 HGNC:853 AVPR2 gene AVPR2 Expert Review Green;NHS GMS;Other Renal tubulopathies Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Diabetes insipidus, nephrogenic, OMIM:304800;Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539 18726898;27565746;27117808;26974133;26828532 False 3 100;0;0 5.11 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126895 ENSG00000126895 HGNC:897 BSND gene BSND Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypokalaemic alkalosis with hypercalciuria;Bartter syndrome type 4a;Sensorineural deafness with mild renal dysfunction MIM 602522 11687798 False 3 100;0;0 5.11 True ENSG00000162399 ENSG00000162399 HGNC:16512 CA2 gene CA2 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730;Osteopetrosis with Renal Tubular Acidosis 1301935 False 3 100;0;0 5.11 True ENSG00000104267 ENSG00000104267 HGNC:1373 CASR gene CASR Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198;Hypocalciuric hypercalcemia, type I, 145980;Hyperparathyroidism, neonatal, 239200 7916660;7673400;7726161;8675635;17698911;7874174;7808841;8733126;12191970;15005845;17048213 False 3 100;0;0 5.11 False ENSG00000036828 ENSG00000036828 HGNC:1514 CLCN5 gene CLCN5 Expert Review Green;NHS GMS Renal tubulopathies Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dent disease 1, OMIM:300009 False 3 100;0;0 5.11 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKB gene CLCNKB Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal 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 9326936;18310267;32506365;32488762;30999883;26770037;27103762 False 3 100;0;0 5.11 True ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN10 gene CLDN10 Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypokalemic-alkalotic salt-losing tubulopathy;HELIX syndrome, OMIM:617671 19307729;31671507 False 3 50;50;0 5.11 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal 248250 10390358;10878661;16528408;16501001;26426912 False 3 100;0;0 5.11 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, 248190 17033971;22422540;27530400 False 3 100;0;0 5.11 False ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM2 gene CNNM2 Expert list;Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypomagnesemia 6, renal, OMIM:613882;Hypomagnesemia, seizures, and mental retardation, OMIM:616418;renal hypomagnesemia 6, MONDO:0013480;Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 33600043;30026055;32997713;34604137;33859252;24699222;35002148;21397062 False 3 100;0;0 5.11 False Other ENSG00000148842 ENSG00000148842 HGNC:103 CTNS gene CTNS Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219800;Cystinosis, late-onset juvenile or adolescent nephropathic 219900;Cystinosis, nephropathic 219800;Cystinosis, ocular nonnephropathic 219750 27604308;9537412;19863563;35137071 False 3 100;0;0 5.11 False ENSG00000040531 ENSG00000040531 HGNC:2518 CUL3 gene CUL3 Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, 214496 22266938 False 3 100;0;0 5.11 False ENSG00000036257 ENSG00000036257 HGNC:2553 CYP24A1 gene CYP24A1 Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypercalcemia, infantile, 1 143880 21675912;22047572 False 3 100;0;0 5.11 False ENSG00000019186 ENSG00000019186 HGNC:2602 FAH gene FAH Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type I 276700" 8723690; 7550234; 27604308 False 3 100;0;0 5.11 False ENSG00000103876 ENSG00000103876 HGNC:3579 GATM gene GATM Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, OMIM:134600 29654216 False 3 100;0;0 5.11 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171766 ENSG00000171766 HGNC:4175 GNA11 gene GNA11 Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant 2 615361 23802536;24823460;23802516 False 3 100;0;0 5.11 False ENSG00000088256 ENSG00000088256 HGNC:4379 HNF1B gene HNF1B Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, 137920;Diabetes mellitus, noninsulin-dependent, 125853 19389850 False 3 100;0;0 5.11 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert list;Expert Review Green Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 22802087;24285859;30005691;28458902;31875549 False 3 100;0;0 5.11 False ENSG00000101076 ENSG00000101076 HGNC:5024 KCNJ1 gene KCNJ1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypokalaemic alkalosis with hypercalciuria;Type 2 Bartter syndrome;often initial transient hyperkalemia;Bartter syndrome, type 2, 241200 False 3 100;0;0 5.11 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal SESAME/EAST syndrome, 612780 19289823;20807765;20651251;21849804 False 3 100;0;0 5.11 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 Expert Review Green;Literature;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypokalemic tubulopathy and deafness, OMIM:619406 33811157;33840812 False 3 100;0;0 5.11 False ENSG00000153822 ENSG00000153822 HGNC:6262 KLHL3 gene KLHL3 Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, 614495 22266938;22406640 False 3 100;0;0 5.11 False ENSG00000146021 ENSG00000146021 HGNC:6354 MAGED2 gene MAGED2 Expert Review Green;NHS GMS Renal tubulopathies Renal X-LINKED: hemizygous mutation in males, biallelic mutations in females Bartter syndrome, type 5, antenatal, transient, OMIM:300971 27120771 False 3 100;0;0 5.11 False ENSG00000102316 ENSG00000102316 HGNC:16353 NR3C2 gene NR3C2 Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism type I, autosomal dominant, 177735;Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern 9662404;12788847;16972228;16954160;12483305 False 3 100;0;0 5.11 False ENSG00000151623 ENSG00000151623 HGNC:7979 OCRL gene OCRL Expert Review Green;NHS GMS Renal tubulopathies Renal X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, OMIM:300555 10364518 False 3 100;0;0 5.11 False ENSG00000122126 ENSG00000122126 HGNC:8108 REN gene REN Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperuricemic nephropathy, familial juvenile 2, 613092;Renal tubular dysgenesis 267430 AR 22095942;16116425;21036942;17555949;19664745 False 3 100;0;0 5.11 False ENSG00000143839 ENSG00000143839 HGNC:9958 RMND1 gene RMND1 Expert list;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, OMIM:614922;tubulopathy;renal tubular acidosis;interstitial nephritis;end-stage renal disease;tubular atrophy 32911714;31889854;31568715 False 3 100;0;0 5.11 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000155906 ENSG00000155906 HGNC:21176 RRAGD gene RRAGD Expert Review Green;Literature;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomagnesaemia;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 34607910 False 3 100;0;0 5.11 False Other ENSG00000025039 ENSG00000025039 HGNC:19903 SARS2 gene SARS2 Expert Review Green;Literature Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845;Progressive Spastic Paresis 21255763;24034276;27279129 False 3 100;0;0 5.11 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCNN1A gene SCNN1A Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350;?Liddle syndrom 3, 618126;Bronchiectasis with or without elevated sweat chloride 2 613021 8589714;10586178 False 3 100;0;0 5.11 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350 8589714;26807262;31301676;31018202 False 3 100;0;0 5.11 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350 8640238;29582446;7550319;12473862;17634077 False 3 100;0;0 5.11 False ENSG00000166828 ENSG00000166828 HGNC:10602 SEC61A1 gene SEC61A1 Expert Review Green;Literature;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyporeninaemic hypoaldosteronism;autosomal dominant tubulointerstitial kidney disease 33185949;30586318;27392076;31488840 False 3 100;0;0 5.11 False ENSG00000058262 ENSG00000058262 HGNC:18276 SLC12A1 gene SLC12A1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344 8640224;32506365;26770037;27103762;8640224;9355073;28095294;32506365 False 3 100;0;0 5.11 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883;30847515 False 3 100;0;0 5.11 True ENSG00000070915 ENSG00000070915 HGNC:10912 SLC22A12 gene SLC22A12 Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypouricemia, renal, 220150 18492088 False 3 100;0;0 5.11 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A2 gene SLC2A2 Expert list;Expert Review Green Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, OMIM:227810 32150856;24175243;24912437 False 3 100;0;0 5.11 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypouricemia, renal, 2, 612076;{Uric acid concentration, serum, QTL 2}, 612076 19026395;19926891;21810765 False 3 100;0;0 5.11 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC4A1 gene SLC4A1 Eligibility statement prior genetic testing;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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. 9312167;9600966 False 3 100;0;0 5.11 True ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities, 604278;Proximal Renal Tubular Acidosis with Ocular Abnormalities;Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive). 10545938 False 3 100;0;0 5.11 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A2 gene SLC5A2 Expert Review Green;NHS GMS Renal tubulopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal glucosuria, 233100 12436245;21165652;26376857 False 3 100;0;0 5.11 False ENSG00000140675 ENSG00000140675 HGNC:11037 TRPM6 gene TRPM6 Expert list;Expert Review Green;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, 602014 12032568;12032570;23942199 False 3 100;0;0 5.11 False ENSG00000119121 ENSG00000119121 HGNC:17995 UMOD gene UMOD Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperuricemic nephropathy, familial juvenile 1, 162000;Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886;Medullary cystic kidney disease 2, 603860 12471200;12629136;14570709;14569098;16883323;20172860;15983957 False 3 100;0;0 5.11 False ENSG00000169344 ENSG00000169344 HGNC:12559 VIPAS39 gene VIPAS39 Expert Review;Expert Review Green Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 20190753 False 3 100;0;0 5.11 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;Literature Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 8151641;16155421;16896922 False 3 100;0;0 5.11 False ENSG00000184056 ENSG00000184056 HGNC:12712 WDR72 gene WDR72 Expert Review Green;Literature;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal 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 30028003;30779877;31959358;33033857 False 3 100;0;0 5.11 False ENSG00000166415 ENSG00000166415 HGNC:26790 WNK4 gene WNK4 Expert Review Green;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, 614491 11498583 False 3 100;0;0 5.11 False ENSG00000126562 ENSG00000126562 HGNC:14544 EHHADH gene EHHADH Expert;Expert Review Amber;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910 False 2 50;0;50 5.11 True Other - please provide details in the comments ENSG00000113790 ENSG00000113790 HGNC:3247 ERCC1 gene ERCC1 Expert Review Amber;Literature Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal hepatorenal syndrome, MONDO:0001382 40684071 False 2 100;0;0 5.11 False ENSG00000012061 ENSG00000012061 HGNC:3433 FOXI1 gene FOXI1 Expert Review;Expert Review Amber;Literature;NHS GMS Renal tubulopathies Renal BIALLELIC, autosomal or pseudoautosomal deafness;renal tubular acidosis;Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number);Enlarged vestibular aqueducts, 6007910 29242249 False 2 50;50;0 5.11 False ENSG00000168269 ENSG00000168269 HGNC:3815 FXYD2 gene FXYD2 Expert Review Amber;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomagnesemia 2, renal, 154020 11062458;25765846 False 2 100;0;0 5.11 False ENSG00000137731 ENSG00000137731 HGNC:4026 GNAS gene GNAS Expert Review Amber;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities. 30312418 False 2 0;100;0 5.11 False ENSG00000087460 ENSG00000087460 HGNC:4392 WNK1 gene WNK1 Expert Review Amber;NHS GMS Renal tubulopathies Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIC, OMIM:614492 11498583 False 2 100;0;0 5.11 False ENSG00000060237 ENSG00000060237 HGNC:14540