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.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • 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

15 genes

14 reviewed, 13 green

List Gene Reviews Mode of inheritance Details
15 genes
Green Green List (high evidence)
ATP6V0A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Distal Renal Tubular Acidosis, Recessive
  • Renal tubular acidosis, distal, autosomal recessive, 602722
  • Distal renal tubular acidosis
Green Green List (high evidence)
ATP6V1B1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal tubular acidosis with deafness, 267300
  • Distal Renal Tubular Acidosis with Progressive Nerve Deafness
  • Distal renal tubular acidosis
Green Green List (high evidence)
BSND
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
Green Green List (high evidence)
CA2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
  • Osteopetrosis with Renal Tubular Acidosis
Green Green List (high evidence)
CLCNKB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
Green Green List (high evidence)
CTNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review
  • Emory Genetics Laboratory
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
Green Green List (high evidence)
EHHADH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • metabolic acidosis, glucosuria, phosphaturia, aminoaciduria, and proteinuria
Green Green List (high evidence)
FAH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Tyrosinemia, type I 276700
Green Green List (high evidence)
KCNJ1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
  • Type 2 Bartter syndrome
  • often initial transient hyperkalemia
Green Green List (high evidence)
SLC12A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis.
Green Green List (high evidence)
SLC12A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
Green Green List (high evidence)
SLC4A1
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Distal Renal Tubular Acidosis, Dominant
  • Ovalocytosis
  • Distal renal tubular acidosis
Green Green List (high evidence)
SLC4A4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Expert
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
Red Red List (low evidence)
SCNN1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • genes for Liddle, GRA, PHA1, hypomagnesemia without stones, AME are all missing
Red Red List (low evidence)
TRPM6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • 602014

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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