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  2. Tubulointerstitial kidney disease
The latest signed off version for the GMS is v3.5. The current version, shown here, may differ from the signed-off version.

Tubulointerstitial kidney disease (Version 3.15)

Level 2: Renal

Relevant disorders: R202
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v3.5 (30 Apr 2025)
Previously signed off versions: v3.4, v3.0, v2.0, v1.3
Description
This panel is used for clinical indication 'R202 Tubulointerstitial kidney disease' 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 'R202 Tubulointerstitial kidney disease'.

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.

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.
Panel Activity

10 reviewers

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • 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

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ida Ertmanska (Genomics England Curator)

    Group: Other
    Workplace: Other

27 Entities

27 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green List (high evidence)
ANKS6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 16 MIM 615382
Tags
Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 15 MIM 614845
Tags
Green List (high evidence)
CEP83
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 18 MIM 615862
Tags
Green List (high evidence)
DNAJB11
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061
  • Tubulointerstitial disease
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)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal cysts and diabetes syndrome MIM 137920
  • NIDDM MIM 125853
Tags
Green List (high evidence)
INVS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 2, infantile MIM 602088
Tags
Green List (high evidence)
MAPKBP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 20 MIM 6175271
Tags
Green List (high evidence)
MT-TF
2 reviews
1 green 		MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial kidney disease
  • tubulointerstitial nephritis
  • renal insufficiency
  • renal failure
Tags
  • gene-checked
  • locus-type-rna-transfer
Green List (high evidence)
MUC1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Medullary cystic kidney disease 1 MIM 174000
Tags
Green List (high evidence)
NPHP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 4 MIM 609583
  • Senior-Loken syndrome-1 MIM 266900
  • Nephronopthisis 1, juvenile MIM 256100
Tags
Green List (high evidence)
NPHP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1, MIM 208540
  • Meckel syndrome 7, MIM 267010
  • Nephronopthisis 3 MIM 604387
Tags
Green List (high evidence)
NPHP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 4 MIM 606996
  • Nephronopthisis 4 MIM 606966
Tags
Green List (high evidence)
REN
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal tubular dysgenesis MIM 267430
  • Familial juvenile Hyperuricemic nephropathy-2 MIM 613092
Tags
Green List (high evidence)
SEC61A1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056
Tags
Green List (high evidence)
TMEM67
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?RHYNS syndrome MIM 602152
  • COACH syndrome 216360 AR 3
  • {Bardet-Biedl syndrome 14, modifier of} MIM 615991
  • ?RHYNS syndrome 602152 AR 3
  • COACH syndrome, MIM 216306
  • Joubert syndrome 6, MIM 610688
  • Nephronopthisis 11 MIM 613550
  • Meckel syndrome 3, MIM 607361
Tags
Green List (high evidence)
TTC21B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 12, OMIM:613820
Tags
Green List (high evidence)
UMOD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Medullary cystic kidney disease 2 MIM 603860
  • Familial juvenile hyperuricemic nephropathy 1 MIM 162000
Tags
Green List (high evidence)
WDR19
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronopthisis 13 MIM 614377
  • ?Cranioectodermal dysplasia 4, MIM 614378
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376
  • Senior-Loken syndrome 8, MIM 616307
Tags
Green List (high evidence)
XPNPEP3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephronophthisis-like nephropathy 1 OMIM:613159
  • nephronophthisis-like nephropathy 1 MONDO:0013163
Tags
Amber List (moderate evidence)
ADAMTS9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephronophthisis-Related Ciliopathy (no OMIM number yet)
Tags
Amber List (moderate evidence)
APOA4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tubulointerstitial kidney disease, autosomal dominant 6, OMIM: 621106
  • tubulointerstitial kidney disease, autosomal dominant 6, MONDO:0976234
Tags
  • Q4_25_NHS_review
  • Q4_25_promote_green
Amber List (moderate evidence)
DCDC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Sclerosing cholangitis, neonatal MIM 617394
  • ?Deafness, autosomal recessive 66 MIM 610212
  • Nephronopthisis 19 MIM 616217
Tags
Amber List (moderate evidence)
GLIS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephronopthisis 7 MIM 611498
Tags
Amber List (moderate evidence)
JAG1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Autosomal dominant tubulointerstitial kidney disease
Tags
  • Q4_25_NHS_review
  • Q4_25_promote_green
Amber List (moderate evidence)
ZNF423
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Joubert syndrome 19, OMIM:614844
  • Nephronophthisis 14, OMIM:614844
Tags
Red List (low evidence)
NEK8
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Nephronopthisis 9 MIM 613824
Tags

Major version comments

  • 2023-03-22 15:56 Achchuthan Shanmugasundram (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.

    2022-11-30 15:32 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
    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 (2.0) following this.

    2019-09-03 13:37 Eleanor Williams (Genomics England Curator) promoted panel to 1.0
    The content of this panel (version 0.14) was signed off under NHS Genomic Medicine Service governance on (03/September/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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