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'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

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

8 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

55 Entities

55 reviewed, 38 green

List Entity Reviews Mode of inheritance Details
55 Entitiess
Green 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 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 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 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, Recessive
  • Renal tubular acidosis, distal, autosomal recessive, 602722
  • Distal renal tubular acidosis
  • Autosomal recessive distal renal tubular acidosis
Tags
Green Green List (high evidence)
ATP6V1B1
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
  • Renal tubular acidosis with deafness, 267300
  • Distal Renal Tubular Acidosis with Progressive Nerve Deafness
  • Distal renal tubular acidosis
Tags
Green 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, 304800
  • Nephrogenic Diabetes Insipidus
  • Diabetes Insipidus, Nephrogenic, X-Linked
  • nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
Tags
  • treatable
Green 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 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 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 Green List (high evidence)
CLCNKB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
  • Bartter syndrome, type 3, 607394
Tags
Green 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 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 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 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 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 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 Green List (high evidence)
GATM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal fanconi syndrome and kidney failure (no MIM number)
  • Cerebral creatine deficiency syndrome 3, 612718 (AR)
Tags
Green 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 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 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 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 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 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, 300971
Tags
Green 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 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 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 Green List (high evidence)
SCNN1B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SCNN1G
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SLC12A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis
  • Bartter syndrome, type 1, 601678
Tags
Green Green List (high evidence)
SLC12A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
  • Gitelman syndrome, 263800
Tags
Green 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 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 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 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 Green List (high evidence)
SLC5A2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal glucosuria, 233100
Tags
Green 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 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 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 Amber List (moderate evidence)
CLCNKA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bartter syndrome, type 4b, digenic 613090
Tags
Amber Amber List (moderate evidence)
CLDN10
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number)
  • HELIX syndrome, 617671
Tags
Amber 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
  • metabolic acidosis, glucosuria, phosphaturia, aminoaciduria, and proteinuria
  • ?Fanconi renotubular syndrome 3, 605615
Tags
Amber 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 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 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 Amber List (moderate evidence)
WDR72
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal RTA
  • hereditary distal renal tubular acidosis
Tags
Amber 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, 614492
Tags
Red 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 Red List (low evidence)
CLCN5
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 Red
  • NHS GMS
Phenotypes
  • Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Tags
Red Red List (low evidence)
EGF
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Hypomagnesemia 4, renal, 611718
Tags
Red 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 Red List (low evidence)
OCRL
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Dent disease 2, 300555. Lowe syndrome, 309000
Tags
Red 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 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 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
Red Red List (low evidence)
XPR1
2 reviews
1 red
Unknown
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Fanconi syndrome
  • hypophosphatamia
Tags

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