Proteinuria (Version 0.229)

Description

To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.

09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.

Panel Activity

21 reviewers

Belinda Chong (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Tiong Tan (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Krithika Murali (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

87 Entities

87 reviewed, 67 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 87 Entitiess
Green Green List (high evidence)	ACTN4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 1, MIM#603278 Tags
Green Green List (high evidence)	ALMS1	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	AMN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Megaloblastic anemia-1, Norwegian type, MIM#261100 Tags
Green Green List (high evidence)	APOE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Lipoprotein glomerulopathy, MIM#611771 Tags
Green Green List (high evidence)	ARHGDIA	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	CD151	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Green Green List (high evidence)	CD2AP	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 Tags
Green Green List (high evidence)	CLCN5	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 list Expert Review Green Phenotypes Dent disease, MIM#300009 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Tags
Green Green List (high evidence)	COL4A3	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COL4A4	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COL4A5	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 Victorian Clinical Genetics Services Phenotypes Alport syndrome 1, X-linked, MIM# 301050 Tags
Green Green List (high evidence)	COQ2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COQ6	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COQ8B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome, type 9, MIM#615573 Tags
Green Green List (high evidence)	CRB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CUBN	2 reviews 2 green	Unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Tags treatable
Green Green List (high evidence)	DAAM2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 24, MIM# 619263 steroid-resistant nephrotic syndrome (SRNS) Tags
Green Green List (high evidence)	DGKE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 7, MIM# 615008 Tags
Green Green List (high evidence)	DLC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neprhotic syndrome Tags
Green Green List (high evidence)	FAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes facial dysmorphism colobomatous microphthalmia ptosis syndactyly with or without nephropathy Tags
Green Green List (high evidence)	FN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Glomerulopathy with fibronectin deposits 2, MIM# 601894 Tags
Green Green List (high evidence)	GLA	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Fabry disease, MIM# 301500 Tags
Green Green List (high evidence)	GON7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 9, MIM# 619603 Tags founder
Green Green List (high evidence)	INF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455 Glomerulosclerosis, focal segmental, 5, MIM# 613237 Tags
Green Green List (high evidence)	ITGA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	ITSN1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	ITSN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	KANK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome, type 16, MIM#617783 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 Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Tags
Green Green List (high evidence)	LAMA5	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 26 620049 Tags
Green Green List (high evidence)	LAMB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pierson syndrome, MIM# 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Tags
Green Green List (high evidence)	LCAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Norum disease, MIM# 245900 Tags
Green Green List (high evidence)	LMX1B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061 LMX1B-related nephropathy Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Green Green List (high evidence)	MAFB	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Multicentric carpotarsal osteolysis syndrome, OMIM#166300 Tags
Green Green List (high evidence)	MAGI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 15, MIM# 617609 Tags
Green Green List (high evidence)	MYH9	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MYO1E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 6, MIM# 614131 Tags
Green Green List (high evidence)	NOS1AP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 22, MIM# 619155 Tags
Green Green List (high evidence)	NPHS1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NPHS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 2 (MIM#600995), AR Tags
Green Green List (high evidence)	NUP107	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 7, MIM# 618348 Tags founder
Green Green List (high evidence)	NUP133	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 18, MIM#618177 Tags
Green Green List (high evidence)	NUP160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 19, MIM#618178 Tags
Green Green List (high evidence)	NUP85	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 17, MIM#618176 Tags
Green Green List (high evidence)	NUP93	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome, type 12, MIM#616892 Tags
Green Green List (high evidence)	OCRL	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Dent disease 2, MIM#300555 Lowe syndrome, MIM#309000 Tags
Green Green List (high evidence)	OSGEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	P3H2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292) Proteinuria, P3H2-related MONDO:0003634 Tags
Green Green List (high evidence)	PAX2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 7, MIM#616002 Tags
Green Green List (high evidence)	PDSS2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	PLCE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 3, MIM# 610725 Tags
Green Green List (high evidence)	PODXL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	PTPRO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 6, MIM# 614196 Tags
Green Green List (high evidence)	SCARB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Tags
Green Green List (high evidence)	SGPL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	TBC1D8B	2 reviews 2 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 Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 20, MIM# 301028 Tags
Green Green List (high evidence)	TNS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	TP53RK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 4, MIM# 617730 Tags
Green Green List (high evidence)	TPRKB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 5, OMIM #617731 Tags
Green Green List (high evidence)	TRIM8	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures nephrotic syndrome proteinuria Tags
Green Green List (high evidence)	TRPC6	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 2, MIM# 603965 Tags
Green Green List (high evidence)	TTC21B	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerular disorder (MONDO:0019722), TTC21B-related Tags
Green Green List (high evidence)	WDR73	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Denys-Drash syndrome, MIM# 194080 Frasier syndrome, MIM#136680 Wilms tumor, type 1, MIM#194070 Nephrotic syndrome, type 4, MIM#256370 Tags
Green Green List (high evidence)	YRDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome Tags
Amber Amber List (moderate evidence)	ANLN	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Focal segmental glomerulosclerosis 8, OMIM #616032 Tags
Amber Amber List (moderate evidence)	APOL1	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 Tags
Amber Amber List (moderate evidence)	EHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, EHD1-related Tags
Amber Amber List (moderate evidence)	EMP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes nephrotic syndrome, type 10 MONDO:0014373 Tags
Amber Amber List (moderate evidence)	KIRREL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephrotic syndrome, type 23, MIM# 619201 Tags
Amber Amber List (moderate evidence)	MEFV	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Familial Mediterranean fever MIM#134610 Familial Mediterranean fever MIM#249100 Neutrophilic dermatosis, acute febrile MIM#608068 Tags
Amber Amber List (moderate evidence)	PRDM15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Steroid resistant nephrotic syndrome Tags
Amber Amber List (moderate evidence)	RCAN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes FSGS proteinuria Tags
Red Red List (low evidence)	ARHGAP24	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes FSGS, MONDO:0005363, ARHGAP24-related Tags
Red Red List (low evidence)	COQ8A	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM#612016 Tags
Red Red List (low evidence)	IL1RAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Steroid-sensitive nephrotic syndrome Tags
Red Red List (low evidence)	ITGB4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 Tags
Red Red List (low evidence)	KANK1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nephrotic syndrome Tags
Red Red List (low evidence)	KANK4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Tags
Red Red List (low evidence)	KAT2B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related Tags
Red Red List (low evidence)	LMNA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Familial partial lipodystrophy FSGS Tags
Red Red List (low evidence)	NUP205	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nephrotic syndrome, type 13, MIM#616893 Tags
Red Red List (low evidence)	NUP37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nephrotic syndrome Tags
Red Red List (low evidence)	SPRY2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes {?IgA nephropathy, susceptibility to, 3} MIM#616818 Tags
Red Red List (low evidence)	XPO5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Nephrotic syndrome Tags

Proteinuria (Version 0.229)

21 reviewers

87 Entities

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