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

7 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

55 Entities

55 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
55 Entitiess
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
Tags
  • treatable
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
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)
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
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)
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
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
Tags
Green Green List (high evidence)
EHHADH
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
  • NHS GMS
Phenotypes
  • metabolic acidosis, glucosuria, phosphaturia, aminoaciduria, and proteinuria
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
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.
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
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
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)
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
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
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
Red Red List (low evidence)
ABCG2
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
AP2S1
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ATP1A1
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CASR
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CLCN5
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CLCNKA
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CLDN10
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CLDN16
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CLDN19
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CUL3
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
CYP24A1
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
EGF
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
FXYD2
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
GATM
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
GNA11
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
GNAS
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
HNF1B
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
KCNA1
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
KCNJ10
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
KLHL3
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
MAGED2
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
NR3C2
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
OCRL
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
REN
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SCNN1A
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SCNN1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing
Tags
Red Red List (low evidence)
SCNN1G
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC22A12
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC2A9
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC34A1
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC34A3
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC5A2
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
SLC9A3R1
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • NHS GMS
Phenotypes
  • 602014
Tags
Red Red List (low evidence)
UMOD
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
WNK1
1 review
1 green
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
WNK4
1 review
1 green
Not set
Sources
  • NHS GMS
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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