PanelApp (test)
  1. Panels
  2. Renal Glomerular Disease_SuperPanel
Description
To be used for undifferentiated renal glomerular disease presenting with haematuria +/- proteinuria

101 Entities

101 reviewed, 72 green

List Entity Reviews Mode of inheritance Details
101 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
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AMN
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 Green List (high evidence)
APOE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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
  • Expert Review Green
Tags
Green Green List (high evidence)
CD151
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 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
  • 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 Review Green
  • Expert list
Phenotypes
  • Dent disease, MIM#300009
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
Tags
Green Green List (high evidence)
COL4A1
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 Green List (high evidence)
COL4A3
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
COL4A3
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 Green List (high evidence)
COL4A4
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 Green List (high evidence)
COL4A4
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • Medicare
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
  • 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
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ8B
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 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
  • Expert Review Green
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 Review Green
  • Expert list
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
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
  • 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 Review Green
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert list
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
  • 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 		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 Green List (high evidence)
MYH9
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • 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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 14, MIM# 617575
Tags
Green Green List (high evidence)
SMARCAL1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • 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 Review Green
  • Expert list
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
WT1
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • 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
  • 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 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)
CD151
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 Red List (low evidence)
CFH
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 Red List (low evidence)
CFHR5
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 Red List (low evidence)
CLCN5
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
COL4A2
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 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)
CUBN
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FN1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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 Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome
Tags
Red Red List (low evidence)
KANK4
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
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)
LMX1B
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NPHS2
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NUP205
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome, type 13, MIM#616893
Tags
Red Red List (low evidence)
NUP37
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome
Tags
Red Red List (low evidence)
OCRL
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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 Review Red
  • Expert list
Phenotypes
  • Nephrotic syndrome
Tags

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