The latest signed off version for the GMS is v5.0. The current version, shown here, may differ from the signed-off version.

Renal tubulopathies (Version 5.11)

Level 2: Renal

Relevant disorders: Renal tubular acidosis, R198
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v5.0 (30 Apr 2025)
Previously signed off versions: v4.18, v4.0, v3.0, v2.23
Previous code: 553f94d5bb5a1616e5ed45a4

Description

This panel is used for clinical indication 'R198 Renal tubulopathies' 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 'R198 Renal tubulopathies'.

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

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

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

This 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

Relevant diseases:
- Distal renal tubular acidosis
- Renal Fanconi syndrome
- Gitelman and Bartter type 3 syndrome (Hypokalaemic alkalosis with hypomagnesaemia & hypocalcalciuria)
- Bartter syndrome type 1, 2 & 4 (Hypokalaemic alkalosis with hypercalciuria)
- Liddle syndrome (hypertensive hypokalaemic alkalosis)
- Gordon syndrome (hypertensive hyperkalaemic acidosis)
- Glucocorticoid remediable hypertension
- Apparent Mineralocorticoid excess
- Pseudohypoaldosteronism type1

Panel Activity

16 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

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

Group: GeCIP domain
Workplace: NHS clinical service
Damian Smedley (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

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

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

Group: Other
Workplace: Other clinical service
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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

Group: GeCIP domain
Workplace: NHS clinical service
Catherine Snow (Genomics England)

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

Group: Other
Workplace: Other
Celia Duff-Farrier (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Julia Baptista (Faculty of Health, University of Plymouth)

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

Group: Other
Workplace: Other
Beccy Cummings (NHS)

Group: Other NHS organisation
Workplace: NHS clinical service

66 Entities

66 reviewed, 52 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 66 Entitiess
Green List (high evidence)	AP2S1	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)	AQP2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Other Phenotypes Diabetes insipidus, nephrogenic, 125800 Nephrogenic diabetes insipidus Tags treatable
Green List (high evidence)	ATP1A1	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	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 Tags
Green List (high evidence)	ATP6V1B1	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN 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	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 Other Phenotypes Diabetes insipidus, nephrogenic, OMIM:304800 Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539 Tags Skewed X-inactivation treatable
Green List (high evidence)	BSND	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Hypokalaemic alkalosis with hypercalciuria Bartter syndrome type 4a Sensorineural deafness with mild renal dysfunction MIM 602522 Tags
Green List (high evidence)	CA2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 Osteopetrosis with Renal Tubular Acidosis Tags
Green List (high evidence)	CASR	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)	CLCN5	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)	CLCNKB	5 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS 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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypomagnesemia 3, renal 248250 Tags
Green List (high evidence)	CLDN19	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	3 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS 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)	CTNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN 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)	CUL3	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypercalcemia, infantile, 1 143880 Tags
Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tyrosinemia, type I 276700 Tags
Green List (high evidence)	GATM	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)	GNA11	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)	HNF1B	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	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 Tags
Green List (high evidence)	KCNJ1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Hypokalaemic alkalosis with hypercalciuria Type 2 Bartter syndrome often initial transient hyperkalemia Bartter syndrome, type 2, 241200 Tags
Green List (high evidence)	KCNJ10	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	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Hypokalemic tubulopathy and deafness, OMIM:619406 Tags
Green List (high evidence)	KLHL3	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)	MAGED2	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)	NR3C2	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)	OCRL	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)	REN	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)	RMND1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS 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)	RRAGD	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes hypomagnesaemia cardiomyopathy tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 Tags
Green List (high evidence)	SARS2	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)	SCNN1A	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	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type I, 264350 Tags
Green List (high evidence)	SCNN1G	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)	SEC61A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes hyporeninaemic hypoaldosteronism autosomal dominant tubulointerstitial kidney disease Tags
Green List (high evidence)	SLC12A1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Bartter syndrome, type 1, OMIM:601678 Bartter disease type 1, MONDO:0100344 Tags monogenic-polygenic
Green List (high evidence)	SLC12A3	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Gitelman syndrome, OMIM: 263800 Gitelman syndrome, MONDO:0009904 Tags monogenic-polygenic
Green List (high evidence)	SLC22A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypouricemia, renal, 220150 Tags
Green List (high evidence)	SLC2A2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Fanconi-Bickel syndrome, OMIM:227810 Tags
Green List (high evidence)	SLC2A9	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)	SLC4A1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen 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)	SLC4A4	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS 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	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)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Hypomagnesemia 1, intestinal, 602014 Tags
Green List (high evidence)	UMOD	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)	VIPAS39	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 Tags
Green List (high evidence)	VPS33B	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)	WDR72	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS 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)	WNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Pseudohypoaldosteronism, type IIB, 614491 Tags
Amber List (moderate evidence)	EHHADH	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Expert Review Amber NHS GMS Phenotypes ?Fanconi renotubular syndrome 3, OMIM:615605 L-bifunctional protein deficiency Metabolic acidosis Increased amino acids in urine Tags
Amber List (moderate evidence)	ERCC1	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	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Literature NHS GMS 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	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)	GNAS	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)	WNK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Pseudohypoaldosteronism, type IIC, OMIM:614492 Tags
Red List (low evidence)	ABCG2	1 review 1 red	Unknown	Sources NHS GMS Phenotypes Serum uric acid concentration and susceptibility to gout, 138900 Tags
Red List (low evidence)	CLCNKA	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)	EGF	1 review 1 red	Not set	Sources NHS GMS Phenotypes Hypomagnesemia 4, renal, 611718 Tags
Red List (low evidence)	KCNA1	1 review 1 red	Not set	Sources NHS GMS Phenotypes Autosomal dominant hypomagnesemia Episodic ataxia/myokymia syndrome,160120 Tags
Red List (low evidence)	SLC34A1	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	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)	SLC9A3R1	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)	XPR1	2 reviews 1 red	Unknown	Sources Expert Review Expert Review Red Literature Phenotypes Fanconi syndrome hypophosphatamia Tags

Major version comments

2025-04-30 16:23 Achchuthan Shanmugasundram (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.

2023-03-22 15:53 Achchuthan Shanmugasundram (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.

2022-11-30 14:59 Arina Puzriakova (Genomics England Curator) 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.

2019-12-04 14:24 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.195) was signed off under NHS Genomic Medicine Service governance on 04/12/2019. The panel was promoted to the next major version (version 2.0) as a result of this

10th May 2016. Revised based on expert review and OMIM

Renal tubulopathies (Version 5.11)

16 reviewers

66 Entities

66 reviewed, 52 green

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