Description
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

Renal tubular acidosis inclusion criteria (29664)
- Renal acid-base or other electrolyte disorders of unknown aetiology.
AND
- Unaffected individuals have undergone appropriate screening for cryptic disease
- Individuals with severe or syndromic disease should be recruited according to standard guidance, preferably as trios
- In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Renal tubular acidosis exclusion criteria (29664)

- Prior genetic testing that identifies a pathogenic mutation in a gene known to cause one or more of the diseases detailed above.

Prior genetic testing guidance (29664)

- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Renal tubular acidosis prior genetic testing genes (29664)

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Distal renal tubular acidosis: SLC4A1, ATP6V0A4, ATP6V1B1
  - Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria: SLC12A3, CLCNKB
  - Hypokalaemic alkalosis with hypercalciuria: SLC12A1, KCNJ1, BSND

Closing statement (29664)
These requirements will be kept under continual review during the main programme and may be subject to change.

6 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

18 Entities

17 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
ATP6V0A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • 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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • 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)
BSND
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
Tags
Green Green List (high evidence)
CA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • 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
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
Tags
Green Green List (high evidence)
CTNS
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
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
Tags
Green Green List (high evidence)
EHHADH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert
  • Expert Review Green
Phenotypes
  • metabolic acidosis, glucosuria, phosphaturia, aminoaciduria, and proteinuria
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)
KCNJ1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
  • Type 2 Bartter syndrome
  • often initial transient hyperkalemia
Tags
Green Green List (high evidence)
SLC12A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis.
Tags
Green Green List (high evidence)
SLC12A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
Tags
Green Green List (high evidence)
SLC4A1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Distal Renal Tubular Acidosis, Dominant
  • Ovalocytosis
  • Distal renal tubular acidosis
Tags
Green Green List (high evidence)
SLC4A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • 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
Amber Amber List (moderate evidence)
FOXI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • Literature
Phenotypes
  • deafness
  • renal tubular acidosis
Tags
Red Red List (low evidence)
SCNN1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
Phenotypes
  • genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing
Tags
Red Red List (low evidence)
TRPM6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • 602014
Tags
Red Red List (low evidence)
XPR1
2 reviews
1 red
Unknown
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Fanconi syndrome
  • hypophosphatamia
Tags
No list No list
WDR72
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • distal RTA
Tags

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