Description
This panel is used for clinical indication 'R195 Proteinuric renal 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 'R195 Proteinuric renal disease'.

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

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Daniel Gale (UCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Maggie Williams (North Bristol NHS Trust)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Helen Brittain (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

95 Entities

95 reviewed, 44 green

List Entity Reviews Mode of inheritance Details
95 Entitiess
Green Green List (high evidence)
ACTN4
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Tags
Green Green List (high evidence)
ARHGDIA
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 8 #615224
Tags
Green Green List (high evidence)
CLCN5
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dent disease, 300009
  • Nephrolithiasis, type I, 310468
  • Hypophosphatemic rickets, 300554
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Tags
Green Green List (high evidence)
COL4A3
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alport syndrome, autosomal dominant #104200
  • Alport syndrome, autosomal recessive #203780
  • Hematuria, benign familial #141200
Tags
Green Green List (high evidence)
COL4A4
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
COL4A5
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Alports
  • Familial benign haematuria
  • Alport syndrome
  • proteinuria
  • haematuria
  • FSGS
Tags
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1 #607426
Tags
Green Green List (high evidence)
COQ6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 #614650
Tags
Green Green List (high evidence)
COQ8B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 9 #615573
Tags
Green Green List (high evidence)
CRB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • steroid resistant nephrotic syndrome
  • Focal segmental glomerulosclerosis 9 #616220
  • Ventriculomegaly with cystic kidney disease #219730
Tags
Green Green List (high evidence)
CUBN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Finnish type, 261100
  • Megaloblastic Anemia
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Green Green List (high evidence)
DLC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Childhood and adult SSNS and SRNS
Tags
Green Green List (high evidence)
EMP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • steroid sensitive nephrotic syndrome
  • Nephrotic syndrome, type 10 #615861
Tags
Green Green List (high evidence)
FAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulotubular nephropathy
Tags
Green Green List (high evidence)
INF2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 5 #613237
  • Adult onset nephrotic syndrome (+CMT)
  • FSGS
  • proteinuria
  • renal failure
Tags
Green Green List (high evidence)
ITGA3
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
Tags
Green Green List (high evidence)
ITSN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Early childhood SSNS
Tags
Green Green List (high evidence)
LAGE3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked #301006
Tags
Green Green List (high evidence)
LAMB2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities #614199
  • Pierson syndrome #609049
Tags
Green Green List (high evidence)
LMX1B
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nail-patella syndrome #161200
  • FSGS
  • proteinuria
  • kidney failure
  • isolated glomerulopathy
Tags
Green Green List (high evidence)
MAGI2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 15 617609
Tags
Green Green List (high evidence)
MYH9
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Epstein syndrome #153650
  • Fechtner syndrome #153640
Tags
Green Green List (high evidence)
MYO1E
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 #614131
Tags
Green Green List (high evidence)
NPHS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 1 #602716
Tags
Green Green List (high evidence)
NPHS2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 2 #600995
Tags
Green Green List (high evidence)
NUP107
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 11 #616730
Tags
Green Green List (high evidence)
NUP133
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Galloway-Mowat syndrome 8 618349
  • Nephrotic syndrome, type 18 618177
Tags
Green Green List (high evidence)
NUP85
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 17 #618176
Tags
Green Green List (high evidence)
NUP93
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
  • Nephrotic syndrome, type 12 #616892
Tags
Green Green List (high evidence)
OCRL
1 review
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
Phenotypes
  • LOWE OCULOCEREBRORENAL SYNDROME #309000
  • Dent disease 2 #300555
Tags
Green Green List (high evidence)
OSGEP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 3 617729
Tags
Green Green List (high evidence)
PAX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 7 #616002
Tags
Green Green List (high evidence)
PDSS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3 #614652
  • Leigh syndrome
Tags
Green Green List (high evidence)
PLCE1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 3 #610725
  • Congenital nephrotic syndrome/SRNS
Tags
Green Green List (high evidence)
PODXL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital nephrotic syndrome
Tags
Green Green List (high evidence)
SCARB2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Action myoclonus renal failure syndrome
  • Epilepsy, progressive myoclonic 4, with or without renal failure #254900
Tags
Green Green List (high evidence)
SGPL1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
Green Green List (high evidence)
SMARCAL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Schimke immunoosseous dysplasia #242900
Tags
Green Green List (high evidence)
TBC1D8B
1 review
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
Phenotypes
  • Steroid-resistant nephrotic syndrome
Tags
Green Green List (high evidence)
TNS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • nephrotic syndrome
Tags
Green Green List (high evidence)
TP53RK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 4 #617730
Tags
Green Green List (high evidence)
TRPC6
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 #603652
  • Proteinuria
  • FSGS
  • kidney failure
  • Familial and sporadic SRNS (adult)
Tags
Green Green List (high evidence)
WDR73
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 1 #251300
Tags
Green Green List (high evidence)
WT1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Denys-Drash syndrome #194080
  • Frasier syndrome #136680
  • Wilms tumor, type 1 #194070
Tags
Amber Amber List (moderate evidence)
AMN
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert
  • Expert Review Amber
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, 261100
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Amber Amber List (moderate evidence)
ANLN
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
  • NHS GMS
Phenotypes
  • Focal segmental glomerulosclerosis 8 616032
Tags
Amber Amber List (moderate evidence)
GLA
1 review
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 Amber
  • NHS GMS
Phenotypes
  • Fabry disease 301500
Tags
Amber Amber List (moderate evidence)
LAMA5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephrotic syndrome
Tags
Amber Amber List (moderate evidence)
LCAT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Norum disease #245900
Tags
Red Red List (low evidence)
ALG1
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Ik #608540
Tags
Red Red List (low evidence)
ALMS1
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Alstrom Syndrome #203800
Tags
Red Red List (low evidence)
ANKFY1
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
APOL1
3 reviews
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Focal Segmental Glomerulosclerosis 4, Susceptibility to #612551
Tags
Red Red List (low evidence)
ARHGAP24
3 reviews
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Focal segmental glomerulosclerosis
Tags
Red Red List (low evidence)
CD151
3 reviews
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness #609057
Tags
Red Red List (low evidence)
CD2AP
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 3 #607832
Tags
Red Red List (low evidence)
CDK20
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Chronic kidney disease
Tags
Red Red List (low evidence)
COL4A1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773
Tags
Red Red List (low evidence)
COQ7
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 #616733
Tags
Red Red List (low evidence)
COQ9
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5 #614654
Tags
Red Red List (low evidence)
CYP11B2
3 reviews
1 red
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency #203400
  • Hypoaldosteronism, congenital, due to CMO II deficiency #610600
Tags
Red Red List (low evidence)
DGKE
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 7 #615008
Tags
Red Red List (low evidence)
DHFR
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
E2F3
3 reviews
2 red
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • FSGS
  • mental retardation
Tags
Red Red List (low evidence)
GAPVD1
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
GIF
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
  • NHS GMS
Phenotypes
  • GIF mutations may phenocopy this disorder
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
  • new-gene-name
Red Red List (low evidence)
ITGB4
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis #226730
Tags
Red Red List (low evidence)
ITSN2
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Early childhood SSNS
Tags
Red Red List (low evidence)
KANK1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Steroid sensitive resistant nephrotic syndrome
Tags
Red Red List (low evidence)
KANK2
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • NHS GMS
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
  • Nephrotic syndrome 16 #617783
Tags
Red Red List (low evidence)
KANK4
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
LMNA
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Partial lipodystrophy and FSGS
Tags
Red Red List (low evidence)
MAFB
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • FSGS with Duane retraction syndrome
Tags
Red Red List (low evidence)
MED28
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
MEFV
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Familial Mediterranean fever, AR #249100
Tags
Red Red List (low evidence)
MTR
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • {Neural tube defects, folate-sensitive, susceptibility to}, 601634
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MTRR
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
NEIL1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • SRNS
Tags
Red Red List (low evidence)
NEU1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • SRNS
Tags
Red Red List (low evidence)
NLRP3
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • SRNS
Tags
Red Red List (low evidence)
NPHP4
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Nephronophthisis 4 #606966
Tags
Red Red List (low evidence)
NUP160
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • ?Nephrotic syndrome, type 19 #618178
Tags
Red Red List (low evidence)
NUP205
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • ?Nephrotic syndrome, type 13 #616893
Tags
Red Red List (low evidence)
NXF5
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • FSGS
  • heart-block disorder
Tags
Red Red List (low evidence)
PMM2
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type Ia #212065
Tags
Red Red List (low evidence)
PTPRO
3 reviews
1 green
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 6 #614196
Tags
Red Red List (low evidence)
SLC19A2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thiamine-Responsive Megaloblastic Anemia
  • Thiamine-responsive megaloblastic anemia syndrome, 249270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
SLC19A3
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) #607483
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
SYNPO
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Focal segmental glomerulosclerosis
  • FSGS
Tags
Red Red List (low evidence)
TPRKB
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 5 #617731
Tags
Red Red List (low evidence)
TTC21B
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Nephronophthisis 12 # 613820
Tags
Red Red List (low evidence)
VIPAS39
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404
Tags
Red Red List (low evidence)
VPS33B
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Tags
Red Red List (low evidence)
XPO5
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Nephrotic syndrome
Tags
Red Red List (low evidence)
ZMPSTE24
3 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Mandibuloacral dysplasia with type B lipodystrophy #608612
Tags

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