Proteinuric renal disease (Version 4.12)

The latest signed off version for the GMS is v4.0. The current version, shown here, may differ from the signed-off version.

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'.

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.

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

Panel Activity

18 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
Moin Saleem (University of Bristol)

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
chirag patel (Genetic Health Queensland)

Group: Other
Workplace: Other clinical service
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Ania Koziell (Kings College London)

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
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Natalie Forrester (SWGLH - Bristol Genetics)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

108 Entities

108 reviewed, 55 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 108 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)	AMN	5 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Norwegian type, OMIM:261100 Tags
Green Green List (high evidence)	APOE	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Lipoprotein glomerulopathy, OMIM:611771 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)	CD151	6 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green NHS GMS Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190 Tags
Green Green List (high evidence)	CLCN5	3 reviews 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 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 Phenotypes Alport syndrome 2, autosomal recessive, OMIM:203780 Hematuria,familial benign, OMIM:141200 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, OMIM: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)	DAAM2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765 Tags
Green Green List (high evidence)	DGKE	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 7, OMIM:615008 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)	FAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Glomerulotubular nephropathy Tags gene-checked
Green Green List (high evidence)	FN1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Glomerulopathy with fibronectin deposits 2, OMIM:601894 Tags
Green Green List (high evidence)	GLA	3 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 Expert Review Green NHS GMS Phenotypes Fabry disease 301500 Tags
Green Green List (high evidence)	GON7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome MONDO:0009627 Tags founder-effect
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 gene-checked
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)	LCAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Norum disease, OMIM:245900 Norum disease, MONDO:0009515 LCAT DEFICIENCY 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 syndrome, OMIM:309000 Dent disease 2, OMIM: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 gene-checked
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, OMIM:242900 Tags
Green Green List (high evidence)	TBC1D8B	2 reviews 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 Nephrotic syndrome, type 20, OMIM:301028 Tags gene-checked
Green Green List (high evidence)	TNS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes nephrotic syndrome Tags gene-checked
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)	TPRKB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Galloway-Mowat syndrome 5, OMIM:617731 Tags
Green Green List (high evidence)	TRIM8	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes nephrotic syndrome epilepsy Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 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
Green Green List (high evidence)	YRDC	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome MONDO:0009627 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)	APOL1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Amber NHS GMS Phenotypes {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551 {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551 Tags
Amber Amber List (moderate evidence)	CD2AP	4 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Amber NHS GMS Phenotypes Glomerulosclerosis, focal segmental, 3 #607832 Tags
Amber Amber List (moderate evidence)	EMP2	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes steroid sensitive nephrotic syndrome Nephrotic syndrome, type 10 #615861 Tags
Amber Amber List (moderate evidence)	KANK2	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Phenotypes Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome Nephrotic syndrome 16 #617783 Tags
Amber Amber List (moderate evidence)	KIRREL1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765 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)	NOS1AP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephrotic syndrome, type 22, OMIM:619155 Tags Q1_24_promote_green
Amber Amber List (moderate evidence)	PRDM15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes steroid-resistant nephrotic syndrome, MONDO:0044765 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	PTPRO	4 reviews 1 green	Not set	Sources Eligibility statement prior genetic testing Expert Review Amber NHS GMS Phenotypes Nephrotic syndrome, type 6 #614196 Tags
Amber Amber List (moderate evidence)	RCAN1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes focal segmental glomerulosclerosis, MONDO:0100313 nephrotic syndrome, MONDO:0005377 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)	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)	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)	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)	DKC1	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes steroid-resistant 6 nephrotic syndrome cataracts (prior to steroid treatment) sensorineural deafness enterocolitis 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)	IL1RAP	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Steroid-sensitive nephrotic syndrome Tags
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)	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, AD, OMIM:134610 Familial Mediterranean fever, AR, OMIM: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	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Phenotypes Muckle-Wells syndrome, OMIM:191900 Renal amyloidosis Tags
Red Red List (low evidence)	NOP10	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant 6 nephrotic syndrome cataracts (prior to steroid treatment) sensorineural deafness enterocolitis 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)	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)	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

Major version comments

2023-03-22 15:50 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
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 (4.0) following this.

2022-11-30 14:58 Eleanor Williams (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.

2019-12-04 14:36 Eleanor Williams (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.226) was signed off under NHS Genomic Medicine Service governance on 04/12/2019. The panel was promoted to the next major version (version 2.0) as a result of this.

Fully curated, mainly non-syndromic forms but a few syndromic genes with prominent renal involvement included.

Proteinuric renal disease (Version 4.12)

18 reviewers

108 Entities

108 reviewed, 55 green

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