Renal Glomerular Disease_SuperPanel (Version 1.84)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 102 Entitiess
Green List (high evidence)	ACTN4 Proteinuria v0.229	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 List (high evidence)	ALMS1 Proteinuria v0.229	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Green List (high evidence)	AMN Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Megaloblastic anemia-1, Norwegian type, MIM#261100 Tags
Green List (high evidence)	APOE Proteinuria v0.229	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Lipoprotein glomerulopathy, MIM#611771 Tags
Green List (high evidence)	ARHGDIA Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	CD151 Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Green List (high evidence)	CD2AP Proteinuria v0.229	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 Victorian Clinical Genetics Services Phenotypes focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 Tags
Green List (high evidence)	CLCN5 Proteinuria v0.229	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 Expert list Phenotypes Dent disease, MIM#300009 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Tags
Green List (high evidence)	COL4A1 Haematuria_Alport v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 Tags
Green List (high evidence)	COL4A3 Haematuria_Alport v1.1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Alport syndrome 3, autosomal dominant, MIM# 104200 Tags Medicare
Green List (high evidence)	COL4A3 Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COL4A4 Haematuria_Alport v1.1	1 review 1 green	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 Alport syndrome 2, autosomal recessive, 203780 Thin basement membrane nephropathy (TBMN), AD Focal segmental glomerulosclerosis (FSGS), AD Tags Medicare
Green List (high evidence)	COL4A4 Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COL4A5 Proteinuria v0.229	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 List (high evidence)	COL4A5 Haematuria_Alport v1.1	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 Medicare
Green List (high evidence)	COQ2 Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	COQ6 Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	COQ8B Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 9, MIM#615573 Tags
Green List (high evidence)	CRB2 Proteinuria v0.229	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 List (high evidence)	CUBN Proteinuria v0.229	2 reviews 2 green	Unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green List (high evidence)	DAAM2 Proteinuria v0.229	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 List (high evidence)	DGKE Proteinuria v0.229	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 List (high evidence)	DLC1 Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Neprhotic syndrome Tags
Green List (high evidence)	FAT1 Proteinuria v0.229	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 List (high evidence)	FN1 Proteinuria v0.229	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Glomerulopathy with fibronectin deposits 2, MIM# 601894 Tags
Green List (high evidence)	GLA Proteinuria v0.229	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Fabry disease, MIM# 301500 Tags
Green List (high evidence)	GON7 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 9, MIM# 619603 Tags founder
Green List (high evidence)	INF2 Proteinuria v0.229	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 List (high evidence)	ITGA3 Proteinuria v0.229	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 List (high evidence)	ITSN1 Proteinuria v0.229	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Literature Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	ITSN2 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	KANK2 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 16, MIM#617783 Tags
Green List (high evidence)	LAGE3 Proteinuria v0.229	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 List (high evidence)	LAMA5 Proteinuria v0.229	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 26 620049 Tags
Green List (high evidence)	LAMB2 Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 List (high evidence)	LCAT Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Norum disease, MIM# 245900 Tags
Green List (high evidence)	LMX1B Proteinuria v0.229	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 List (high evidence)	LRP2 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Green List (high evidence)	MAFB Proteinuria v0.229	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Multicentric carpotarsal osteolysis syndrome, OMIM#166300 Tags
Green List (high evidence)	MAGI2 Proteinuria v0.229	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 List (high evidence)	MYH9 Haematuria_Alport v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Green List (high evidence)	MYH9 Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	MYO1E Proteinuria v0.229	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 List (high evidence)	NOS1AP Proteinuria v0.229	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 22, MIM# 619155 Tags
Green List (high evidence)	NPHS1 Proteinuria v0.229	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	NPHS2 Proteinuria v0.229	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 List (high evidence)	NUP107 Proteinuria v0.229	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 List (high evidence)	NUP133 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 18, MIM#618177 Tags
Green List (high evidence)	NUP160 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 19, MIM#618178 Tags
Green List (high evidence)	NUP85 Proteinuria v0.229	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 17, MIM#618176 Tags
Green List (high evidence)	NUP93 Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 12, MIM#616892 Tags
Green List (high evidence)	OCRL Proteinuria v0.229	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dent disease 2, MIM#300555 Lowe syndrome, MIM#309000 Tags
Green List (high evidence)	OSGEP Proteinuria v0.229	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 List (high evidence)	P3H2 Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292) Proteinuria, P3H2-related MONDO:0003634 Tags
Green List (high evidence)	PAX2 Proteinuria v0.229	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 List (high evidence)	PDSS2 Proteinuria v0.229	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PLCE1 Proteinuria v0.229	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 List (high evidence)	PODXL Proteinuria v0.229	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	PTPRO Proteinuria v0.229	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 List (high evidence)	SCARB2 Proteinuria v0.229	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 List (high evidence)	SGPL1 Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes RENI syndrome (MIM#617575) Tags
Green List (high evidence)	SMARCAL1 Proteinuria v0.229	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	TBC1D8B Proteinuria v0.229	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 Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 20, MIM# 301028 Tags
Green List (high evidence)	TNS2 Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome Tags
Green List (high evidence)	TP53RK Proteinuria v0.229	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 List (high evidence)	TPRKB Proteinuria v0.229	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 5, OMIM #617731 Tags
Green List (high evidence)	TRIM8 Proteinuria v0.229	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 List (high evidence)	TRPC6 Proteinuria v0.229	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 List (high evidence)	TTC21B Proteinuria v0.229	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 List (high evidence)	WDR73 Proteinuria v0.229	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	WT1 Proteinuria v0.229	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 List (high evidence)	YRDC Proteinuria v0.229	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome Tags
Amber List (moderate evidence)	ANLN Proteinuria v0.229	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Focal segmental glomerulosclerosis 8, OMIM #616032 Tags
Amber List (moderate evidence)	APOL1 Proteinuria v0.229	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 List (moderate evidence)	EHD1 Proteinuria v0.229	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, EHD1-related Tags
Amber List (moderate evidence)	EMP2 Proteinuria v0.229	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes nephrotic syndrome, type 10 MONDO:0014373 Tags
Amber List (moderate evidence)	KIRREL1 Proteinuria v0.229	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephrotic syndrome, type 23, MIM# 619201 Tags
Amber List (moderate evidence)	MEFV Proteinuria v0.229	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial Mediterranean fever MIM#134610 Familial Mediterranean fever MIM#249100 Neutrophilic dermatosis, acute febrile MIM#608068 Tags
Amber List (moderate evidence)	PRDM15 Proteinuria v0.229	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Steroid resistant nephrotic syndrome Tags
Amber List (moderate evidence)	RCAN1 Proteinuria v0.229	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes FSGS proteinuria Tags
Red List (low evidence)	ARHGAP24 Proteinuria v0.229	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 List (low evidence)	CD151 Haematuria_Alport v1.1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Red List (low evidence)	CFH Haematuria_Alport v1.1	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Complement factor H deficiency, MIM#609814 Tags
Red List (low evidence)	CFHR5 Haematuria_Alport v1.1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephropathy due to CFHR5 deficiency, MIM#614809 Tags SV/CNV
Red List (low evidence)	CLCN5 Haematuria_Alport v1.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	COL4A2 Haematuria_Alport v1.1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brain small vessel disease 2, MIM#614483 Tags
Red List (low evidence)	COQ8A Proteinuria v0.229	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 List (low evidence)	CUBN Haematuria_Alport v1.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FN1 Haematuria_Alport v1.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	IL1RAP Proteinuria v0.229	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Steroid-sensitive nephrotic syndrome Tags
Red List (low evidence)	ITGB4 Proteinuria v0.229	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 List (low evidence)	KANK1 Proteinuria v0.229	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome Tags
Red List (low evidence)	KANK4 Proteinuria v0.229	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Tags
Red List (low evidence)	KAT2B Proteinuria v0.229	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related Tags
Red List (low evidence)	LMNA Proteinuria v0.229	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 List (low evidence)	LMX1B Haematuria_Alport v1.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NPHS2 Haematuria_Alport v1.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	NUP205 Proteinuria v0.229	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome, type 13, MIM#616893 Tags
Red List (low evidence)	NUP37 Proteinuria v0.229	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome Tags
Red List (low evidence)	OCRL Haematuria_Alport v1.1	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SPRY2 Proteinuria v0.229	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 List (low evidence)	XPO5 Proteinuria v0.229	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome Tags

Renal Glomerular Disease_SuperPanel (Version 1.84)

102 Entities

102 reviewed, 72 green

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