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'.

The content of this panel (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/548/?version=1.3) was signed off under NHS Genomic Medicine Service governance on 4 Mar 2020.

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 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.

5 reviewers

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

25 Entities

25 reviewed, 17 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green 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 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 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 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
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 MIM 137920
  • NIDDM MIM 125853
Tags
Green 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 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 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
Green 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 Green List (high evidence)
NPHP1
1 review
1 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 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 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 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 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 Green List (high evidence)
TTC21B
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819
  • Nephronopthisis 12 MIM 613820
Tags
Green 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 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
Amber 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 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 Amber List (moderate evidence)
DNAJB11
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061
  • Tubulointerstitial disease
Tags
  • for-review
Amber Amber List (moderate evidence)
GLIS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephronopthisis 7 MIM 611498
Tags
Amber Amber List (moderate evidence)
SEC61A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Familial juvenile Hyperuricemic nephropathy-4 MIM 617056
Tags
  • for-review
Amber Amber List (moderate evidence)
XPNPEP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephronopthisis-like nephropathy 1 MIM 613159
Tags
Amber 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 MIM 614844
  • Nephronopthisis 14
Tags
Red 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

Downloads

Download lists

Download Version