PanelApp (staging)
  1. Panels
  2. Kidneyome_SuperPanel
Description
This panel was updated in Dec'22 and is maintained by the KidGen Collaborative. It contains genes currently associated with Mendelian renal disease.

530 Entities

526 reviewed, 405 green

List Entity Reviews Mode of inheritance Details
530 Entitiess
Green Green List (high evidence)
ACE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green Green List (high evidence)
ACTG2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Visceral myopathy, MIM# 155310
Tags
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)
AFF3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • KINSSHIP syndrome, MIM# 619297
Tags
Green Green List (high evidence)
AGT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green Green List (high evidence)
AGTR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green Green List (high evidence)
AGXT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • MONDO:0009823
  • Hyperoxaluria, primary, type 1, MIM# 259900
Tags
Green Green List (high evidence)
AHI1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3, MIM#608629
Tags
Green Green List (high evidence)
AIRE
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300
Tags
Green Green List (high evidence)
ALG5
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polycystic kidney disease 7, MIM# 620056
  • Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline
Tags
Green Green List (high evidence)
ALG8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Tags
Green Green List (high evidence)
ALG9
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Il, MIM#608776
  • Gillessen-Kaesbach-Nishimura syndrome, MIM#263210
  • Polycystic kidney disease
  • ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000
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)
ALPL
4 reviews
4 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphatasia, childhood, OMIM #241510
  • Odontohypophosphatasia, OMIM #146300
  • Hypophosphatasia, adult, OMIM # 146300
  • Hypophosphatasia, infantile, OMIM #241500
Tags
Green Green List (high evidence)
AMMECR1
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 Review
  • Expert Review
Phenotypes
  • Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
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)
ANKS6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 16, MIM# 615382
  • MONDO:0014158
Tags
Green Green List (high evidence)
ANOS1
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)
AP2S1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Hypocalciuric hypercalcaemia, type III, MIM# 600740
  • MONDO:0010926
Tags
Green Green List (high evidence)
APOA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyloidosis, 3 or more types, MIM#105200
Tags
Green Green List (high evidence)
APOA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hereditary amyloidosis, MONDO:0018634, APOA4-related
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)
APRT
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM#614723
Tags
Green Green List (high evidence)
AQP2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, nephrogenic MIM#125800
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)
ARL13B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 8, MIM# 612291
Tags
Green Green List (high evidence)
ARL6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 3, MIM# 600151
Tags
Green Green List (high evidence)
ATP1A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036
  • Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314
Tags
Green Green List (high evidence)
ATP6V0A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Tags
Green Green List (high evidence)
ATP6V1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Tags
Green Green List (high evidence)
AVP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
Tags
Green Green List (high evidence)
AVPR2
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
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • Expert list
Phenotypes
  • Nephrogenic syndrome of inappropriate antidiuresis 300539
  • Diabetes insipidus, nephrogenic 304800
Tags
Green Green List (high evidence)
B2M
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • variant ABeta2M amyloidosis MONDO:0017810
Tags
Green Green List (high evidence)
BBS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, MIM# 209900
Tags
Green Green List (high evidence)
BBS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, MIM# 615987
Tags
Green Green List (high evidence)
BBS12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, MIM# 615989
Tags
Green Green List (high evidence)
BBS2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, MIM# 615981
Tags
Green Green List (high evidence)
BBS4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 4, MIM#615982
  • MONDO:0014433
Tags
Green Green List (high evidence)
BBS5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 5, MIM#615983
  • MONDO:0014434
Tags
Green Green List (high evidence)
BBS7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 7, MIM# 615984
  • MONDO:0014435
Tags
Green Green List (high evidence)
BBS9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 9, MIM#615986
  • MONDO:0014437
Tags
Green Green List (high evidence)
BCS1L
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type MIM#112400
  • Bjornstad syndrome MIM#262000
  • GRACILE syndrome, MIM#603358
Tags
Green Green List (high evidence)
BMP4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Green Green List (high evidence)
BNC2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Lower urinary tract obstruction, congenital
  • OMIM #618612
Tags
Green Green List (high evidence)
BSND
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 4a, MIM# 602522
Tags
Green Green List (high evidence)
C3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925
Tags
Green Green List (high evidence)
CA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Tags
Green Green List (high evidence)
CACNA1D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
  • MONDO:0014200
Tags
Green Green List (high evidence)
CACNA1D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • MONDO:0014200
  • Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474
Tags
Green Green List (high evidence)
CACNA1H
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type IV MIM#617027
  • MONDO:0014875
Tags
Green Green List (high evidence)
CACNA1H
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • MONDO:0014875
  • Hyperaldosteronism, familial, type IV MIM#617027
Tags
Green Green List (high evidence)
CACNA1S
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypokalemic periodic paralysis, type 1, MIM# 170400
Tags
Green Green List (high evidence)
CASR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
  • Hypocalciuric hypercalcemia, type I, MIM# 145980
Tags
Green Green List (high evidence)
CC2D2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 6, MIM# 612284
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)
CD46
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR
  • Atypical hemolytic uremic syndrome 2
Tags
Green Green List (high evidence)
CDC73
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism-jaw tumour syndrome, MIM# 145001
  • Hyperparathyroidism, familial primary, MIM# 145000
Tags
Green Green List (high evidence)
CDKN1B
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple endocrine neoplasia type 4, MEN4, OMIM #610755
Tags
Green Green List (high evidence)
CDX2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005
  • Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs
Tags
Green Green List (high evidence)
CELSR3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), CELSR3-related
Tags
Green Green List (high evidence)
CENPF
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Stromme syndrome, MIM#243605
Tags
Green Green List (high evidence)
CEP164
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome
  • Nephronophthisis 15, MIM# 614845
  • Oro-facio-digital syndrome
Tags
Green Green List (high evidence)
CEP290
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Senior-Loken syndrome 6, MIM# 610189
Tags
Green Green List (high evidence)
CEP55
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
Tags
Green Green List (high evidence)
CEP83
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 18, MIM# 615862
  • MONDO:0014374
  • Retinal dystrophy
  • ID
Tags
Green Green List (high evidence)
CFB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924
Tags
Green Green List (high evidence)
CFH
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CFHR1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Tags
  • SV/CNV
Green Green List (high evidence)
CFHR2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
  • SV/CNV
Green Green List (high evidence)
CFHR3
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400
Tags
  • SV/CNV
Green Green List (high evidence)
CFHR5
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
  • SV/CNV
Green Green List (high evidence)
CFI
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
CHD7
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CHARGE syndrome MIM#214800
Tags
Green Green List (high evidence)
CHRNA3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type II 605635
Tags
Green Green List (high evidence)
CLCN2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type II 605635
Tags
Green Green List (high evidence)
CLCN5
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dent disease, MIM#300009
  • Nephrolithiasis, type I, MIM#310468
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
  • Hypophosphatemic rickets, MIM#300554
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)
CLCNKB
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 3, MIM# 607364
  • Bartter syndrome, type 4b, digenic, MIM# 613090
Tags
Green Green List (high evidence)
CLDN10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • HELIX syndrome, MIM#617671
Tags
Green Green List (high evidence)
CLDN16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • amelogenesis imperfecta MONDO#0019507, CLDN16-related
  • Hypomagnesemia 3, renal MIM#248250
Tags
Green Green List (high evidence)
CLDN19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190
Tags
Green Green List (high evidence)
CNNM2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesemia 6, renal MIM#613882
  • Hypomagnesemia, seizures, and mental retardation MIM#616418
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)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
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)
COL4A3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
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 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
Tags
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
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
  • Literature
Phenotypes
  • Alport syndrome MONDO:0018965
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)
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)
CPT2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, infantile 600649
  • CPT II deficiency, myopathic, stress-induced 255110
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)
CRB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM# 219730
Tags
Green Green List (high evidence)
CSPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 21, MIM# 615636
  • MONDO:0014288
Tags
Green Green List (high evidence)
CTNS
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Cystinosis, nephropathic MIM#219800
Tags
Green Green List (high evidence)
CTU2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
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)
CUL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIE, MIM# 614496
Tags
Green Green List (high evidence)
CUL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIE, MIM# 614496
Tags
Green Green List (high evidence)
CYP11B1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Aldosteronism, glucocorticoid-remediable, MIM# 103900
Tags
Green Green List (high evidence)
CYP11B1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Aldosteronism, glucocorticoid-remediable, MIM# 103900
Tags
  • treatable
Green Green List (high evidence)
CYP11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Tags
Green Green List (high evidence)
CYP11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)
Tags
  • treatable
Green Green List (high evidence)
CYP17A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
Green Green List (high evidence)
CYP17A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Tags
Green Green List (high evidence)
CYP21A2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
Tags
Green Green List (high evidence)
CYP21A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910
Tags
Green Green List (high evidence)
CYP24A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalcaemia, infantile, 1, MIM# 143880
  • MONDO:0020739
Tags
Green Green List (high evidence)
CYP27B1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
Phenotypes
  • Vitamin D-dependent rickets, type I MIM#264700
Tags
Green Green List (high evidence)
CYP2R1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081
Tags
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)
DCDC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 19, MIM# 616217
Tags
Green Green List (high evidence)
DGKE
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)
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)
DHCR7
5 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Smith-Lemli-Opitz syndrome
  • OMIM #270400
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)
DLG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Yuksel-Vogel-Bauer syndrome, MIM#620703
Tags
Green Green List (high evidence)
DMP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
Phenotypes
  • Hypophosphatemic rickets MIM#241520
Tags
Green Green List (high evidence)
DNAJB11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Tags
Green Green List (high evidence)
DNAJB11
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
  • Ivermark II syndrome.
Tags
Green Green List (high evidence)
DYNC2H1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
  • MONDO:0013127MONDO:0013127
Tags
Green Green List (high evidence)
DYRK1A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 7 (MIM#614104)
Tags
Green Green List (high evidence)
DZIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic kidney disease 5, MIM#617610
Tags
Green Green List (high evidence)
EHHADH
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Fanconi renotubular syndrome 3, MIM#615605
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Arterial calcification, generalized, of infancy, 1, MIM# 208000
  • Cole disease, MIM# 615522
  • Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Tags
Green Green List (high evidence)
EXOC3L2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Brain malformation renal syndrome, MIM# 620943
Tags
Green Green List (high evidence)
EYA1
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)
FAH
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Tyrosinemia type I MONDO:0010161
Tags
Green Green List (high evidence)
FAM111A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
Phenotypes
  • autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Tags
Green Green List (high evidence)
FAM20A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690
Tags
Green Green List (high evidence)
FAM20C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • MONDO:0009821
  • Raine syndrome, MIM# 259775
Tags
Green Green List (high evidence)
FAM58A
2 reviews
2 green 		Other
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • STAR syndrome, MIM# 300707
Tags
Green Green List (high evidence)
FAN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Interstitial nephritis, karyomegalic, MIM# 614817
Tags
Green Green List (high evidence)
FAN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Interstitial nephritis, karyomegalic, MIM# 614817
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)
FGA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyloidosis, familial visceral, MIM#105200
Tags
Green Green List (high evidence)
FGF23
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
Phenotypes
  • autosomal dominant hypophosphatemic rickets MONDO:0008660
  • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251
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)
FOXI1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • autosomal recessive distal renal tubular acidosis MONDO:0018440
Tags
Green Green List (high evidence)
FOXP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation with language impairment and with or without autistic features, MIM# 613670
Tags
Green Green List (high evidence)
FRAS1
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)
FREM1
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)
FREM2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GALNT3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Tags
Green Green List (high evidence)
GANAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 3, MIM# 600666
Tags
Green Green List (high evidence)
GATA3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255
Tags
Green Green List (high evidence)
GATA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255
Tags
Green Green List (high evidence)
GATM
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Fanconi renotubular syndrome 1, MIM# 134600
Tags
Green Green List (high evidence)
GCM2
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism 4, OMIM #617343
  • Hypoparathyroidism, familial isolated 2, OMIM #618883
Tags
Green Green List (high evidence)
GDF6
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic CAKUT
Tags
Green Green List (high evidence)
GFRA1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal hypodysplasia/aplasia 4, MIM# 619887
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)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Phenotypes
  • Fabry disease (MIM# 301500)
Tags
Green Green List (high evidence)
GLI3
3 reviews
3 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GLIS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 7, OMIM#611498
  • MONDO:0012680
Tags
Green Green List (high evidence)
GNA11
3 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalciuric hypercalcemia, type II MIM#145981
  • Hypocalcemia, autosomal dominant 2 MIM#615361
Tags
Green Green List (high evidence)
GNAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohypoparathyroidism Ic (612462) AD
  • Pituitary adenoma 3, multiple types, somatic (617686)
  • Pseudohypoparathyroidism Ia (103580) AD
  • Pseudohypoparathyroidism Ib (603233) AD
  • Osseous heteroplasia, progressive (166350) AD
  • Pseudopseudohypoparathyroidism (612463)
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)
GPC3
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)
GREB1L
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM# 617805
Tags
Green Green List (high evidence)
GRHPR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperoxaluria, primary, type II, MIM# 260000
  • MONDO:0009824
Tags
Green Green List (high evidence)
GRIP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fraser syndrome 3 MIM#617667
  • CAKUT
Tags
Green Green List (high evidence)
GSN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyloidosis, Finnish type, MIM#105200
Tags
Green Green List (high evidence)
HAAO
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853 AD
  • Renal cysts and diabetes syndrome 137920 AD
  • {Renal cell carcinoma} 144700
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
HNF1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal cysts and diabetes syndrome, MIM#137920
Tags
Green Green List (high evidence)
HNF4A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • MODY, type I, OMIM # 125850
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
Tags
Green Green List (high evidence)
HOGA1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Phenotypes
  • Hyperoxaluria, primary, type III MIM#613616
Tags
Green Green List (high evidence)
HOXA13
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)
HPRT1
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
  • HPRT-related gout (MIM# 300323)
  • Lesch-Nyhan syndrome (MIM# 300322)
Tags
Green Green List (high evidence)
HPSE2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Urofacial syndrome 1 MIM#236730
Tags
Green Green List (high evidence)
HS2ST1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194
Tags
Green Green List (high evidence)
HSD11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • MONDO:0009025
  • Apparent mineralocorticoid excess, MIM# 218030
Tags
Green Green List (high evidence)
HSD11B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Apparent mineralocorticoid excess, MIM# 218030
  • MONDO:0009025
Tags
Green Green List (high evidence)
HSD3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Tags
Green Green List (high evidence)
HSD3B2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810
Tags
Green Green List (high evidence)
HSPA9
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Even-plus syndrome, MIM# 616854
  • skeletal anomalies
  • congenital cardiac and renal anomalies: marked small nose
Tags
Green Green List (high evidence)
IFT122
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Cranioectodermal dysplasia 1, MIM# 218330
  • MONDO:0021093
Tags
Green Green List (high evidence)
IFT140
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cystic Kidney Disease, MONDO# 0002473
Tags
Green Green List (high evidence)
IFT140
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920
  • MONDO:0009964
  • Cystic Kidney Disease, MONDO# 0002473, IFT140-related, dominant
Tags
Green Green List (high evidence)
IFT172
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 20, MIM# 619471
  • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Tags
Green Green List (high evidence)
IFT27
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 19, MIM#615996
Tags
Green Green List (high evidence)
IFT43
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866
  • Cranioectodermal dysplasia 3, MIM# 614099
Tags
Green Green List (high evidence)
IFT74
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 20 617119
Tags
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)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 1, MIM# 213300
  • MONDO:0008944
Tags
Green Green List (high evidence)
INVS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 2, infantile, (MIM#602088)
Tags
Green Green List (high evidence)
IQCB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Senior-Loken syndrome 5, MIM# 609254
  • MONDO:0012225
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)
ITGA8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 1, MIM# 191830
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)
JAG1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
KCNA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Epilepsy, MONDO:0005027, KCNA1-related
  • Episodic ataxia/myokymia syndrome, MIM# 160120
Tags
Green Green List (high evidence)
KCNJ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 2, MIM#241200
Tags
Green Green List (high evidence)
KCNJ10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • SESAME syndrome, MIM# 612780
Tags
Green Green List (high evidence)
KCNJ16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • deafness
  • Renal tubulopathy
  • Inherited renal tubular disease, MONDO:0015962, KCNJ16-related
Tags
Green Green List (high evidence)
KCNJ5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type III, MIM# 613677
Tags
Green Green List (high evidence)
KCNJ5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hyperaldosteronism, familial, type III, MIM# 613677
Tags
Green Green List (high evidence)
KDM6A
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
KIF14
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 20, primary, autosomal recessive, OMIM #617914
  • ?Meckel syndrome 12, OMIM #616258
Tags
Green Green List (high evidence)
KLHL3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495
Tags
Green Green List (high evidence)
KLHL3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IID, MIM# 614495
Tags
Green Green List (high evidence)
KMT2D
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)
KYNU
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
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
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
Phenotypes
  • Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900
  • Fish-Eye disease, MIM# 136120
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)
LIFR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT MONDO:0019719, LIFR-related
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)
LRIG2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
LRP4
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
LYZ
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amyloidosis, renal, MIM#105200
Tags
Green Green List (high evidence)
LZTFL1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 17 (MIM#615994)
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)
MAGED2
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 5, antenatal, transient, MIM# 300971
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)
MAPKBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 20, MIM# 617271
  • MONDO:0014997
Tags
Green Green List (high evidence)
MEN1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Expert list
Phenotypes
  • Multiple endocrine neoplasia 1 MIM#131100
Tags
Green Green List (high evidence)
MKKS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 6 (MIM#605231)
  • McKusick-Kaufman syndrome, MIM# 236700
Tags
Green Green List (high evidence)
MKS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 13, MIM# 615990
  • MONDO:0014441
  • Meckel syndrome 1, MIM# 249000
Tags
Green Green List (high evidence)
MMACHC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
  • treatable
Green Green List (high evidence)
MOCOS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Xanthinuria type II, MIM#603592
Tags
Green Green List (high evidence)
MUC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
MUC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Medullary cystic kidney disease 1, MIM# 174000
Tags
Green Green List (high evidence)
MUT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Methylmalonic aciduria, mut(0) type, MIM# 251000
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)
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)
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)
MYOCD
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megabladder
  • congenital heart disease
  • cardiomyopathy
Tags
Green Green List (high evidence)
NADSYN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
  • Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Tags
Green Green List (high evidence)
NEK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
Green Green List (high evidence)
NEK8
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 2, MIM# 615415
  • MONDO:0014174
  • Familial renal cystic disease MONDO:0019741, NEK8-related, dominant
Tags
Green Green List (high evidence)
NEK8
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Polycystic kidney disease 8, MIM# 620903
Tags
Green Green List (high evidence)
NFIA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Brain malformations with or without urinary tract defects - MIM#613735
Tags
Green Green List (high evidence)
NIPBL
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
NLRP3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Muckle-Wells syndrome, MIM#191900
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)
NOTCH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Alagille syndrome 2 (MIM#610205)
  • Hajdu-Cheney syndrome (MIM#102500)
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 1, juvenile, MIM# 256100
Tags
  • SV/CNV
Green Green List (high evidence)
NPHP3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 3, MIM# 604387
  • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Tags
Green Green List (high evidence)
NPHP3
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Tags
Green Green List (high evidence)
NPHP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 4, MIM# 606966
  • Senior-Loken syndrome 4, MIM# 606996
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)
NPNT
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Renal agenesis, MONDO:0018470, NPNT-related
Tags
Green Green List (high evidence)
NPR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Genetic hypertension MONDO:0015512
Tags
Green Green List (high evidence)
NR3C1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glucocorticoid resistance, OMIM # 615962
Tags
Green Green List (high evidence)
NR3C1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glucocorticoid resistance, OMIM # 615962
Tags
Green Green List (high evidence)
NR3C2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735
  • MONDO:0008329
Tags
Green Green List (high evidence)
NR3C2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735
  • MONDO:0008329
Tags
Green Green List (high evidence)
NR6A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Craniofacial microsomia MONDO:0015397
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)
OCRL
3 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 list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dent disease 2, MIM #300555
  • Lowe syndrome, MIM# 309000
Tags
Green Green List (high evidence)
OFD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome I, MIM# 311200
  • Joubert syndrome 10, MIM# 300804
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)
PAN2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • Syndromic disease MONDO:0002254
Tags
Green Green List (high evidence)
PAX2
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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)
PBX1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641
Tags
Green Green List (high evidence)
PCBD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070
Tags
Green Green List (high evidence)
PDE3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypertension and brachydactyly syndrome, MIM# 112410
Tags
Green Green List (high evidence)
PDE3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Hypertension and brachydactyly syndrome, MIM# 112410
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)
PHEX
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
  • Literature
  • Expert Review Green
  • Literature
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant
  • OMIM #307800
Tags
Green Green List (high evidence)
PKD1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 1, MIM# 173900
Tags
Green Green List (high evidence)
PKD2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 2, MIM#613095 AD
Tags
Green Green List (high evidence)
PKHD1
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200
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)
PMM2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related
Tags
  • 5'UTR
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)
PRKCSH
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Phenotypes
  • Polycystic liver disease 1, MIM# 174050, with or without kidney cysts
Tags
Green Green List (high evidence)
PSKH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cholestasis, progressive familial intrahepatic, 13, MIM# 620962
Tags
Green Green List (high evidence)
PTH
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoparathyroidism, familial isolated 1, MIM# 146200
Tags
Green Green List (high evidence)
PTH1R
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400
  • Failure of tooth eruption, primary MIM#125350
  • Eiken syndrome MIM#600002
  • Chondrodysplasia, Blomstrand type MIM#215045
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)
REN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green Green List (high evidence)
REN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Autosomal dominant tubulointerstitial disease
Tags
Green Green List (high evidence)
RET
0 reviews
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
RET
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review
Phenotypes
  • Multiple endocrine neoplasia IIB, MIM# 162300
  • Multiple endocrine neoplasia IIA, MIM# 171400
Tags
Green Green List (high evidence)
RMND1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Phenotypes
  • Combined oxidative phosphorylation deficiency 11 MIM#614922
Tags
Green Green List (high evidence)
ROBO1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurooculorenal syndrome, MIM# 620305
Tags
Green Green List (high evidence)
ROBO2
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)
ROR2
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)
RPGRIP1L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 7, MIM# 611560
  • Meckel syndrome 5, MIM# 611561
  • COACH syndrome 3, MIM# 619113
  • Nephronophthisis
Tags
Green Green List (high evidence)
RRAGD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited renal tubular disease, MONDO:0015962, RRAGD-related
  • dilated cardiomyopathy
  • hypomagnesaemia
  • renal salt-wasting
  • nephrocalcinosis
Tags
Green Green List (high evidence)
RRM2B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Tags
Green Green List (high evidence)
SALL1
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)
SALL4
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • SALL4- related disorders
Tags
Green Green List (high evidence)
SARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • neurodevelopmental disorder MONDO#070009, SARS1-related
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)
SCLT1
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Senior-Loken syndrome
  • Bardet-Biedl syndrome
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390
  • Myasthenic syndrome, congenital, 16, MIM# 614198
  • Hypokalemic periodic paralysis, type 2, MIM# 613345
  • Paramyotonia congenita , MIM#168300
  • Hyperkalemic periodic paralysis, type 2, MIM# 170500
Tags
Green Green List (high evidence)
SCNN1A
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Red
  • Expert Review
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 2 613021 AD
  • Pseudohypoaldosteronism, type I 264350 AR.
  • ?Liddle syndrome 3 618126 AD
Tags
Green Green List (high evidence)
SCNN1A
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • ?Liddle syndrome 3 618126 AD
  • Bronchiectasis with or without elevated sweat chloride 2 613021 AD
  • Pseudohypoaldosteronism, type I 264350 AR.
Tags
Green Green List (high evidence)
SCNN1B
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Liddle syndrome 1, MIM# 177200
  • Pseudohypoaldosteronism, type I, MIM# 264350
Tags
Green Green List (high evidence)
SCNN1B
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type I, MIM# 264350
  • Liddle syndrome 1, MIM# 177200
Tags
Green Green List (high evidence)
SCNN1G
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Liddle syndrome 2, MIM# 618114
  • Pseudohypoaldosteronism, type I, MIM# 264350
Tags
Green Green List (high evidence)
SCNN1G
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type I, MIM# 264350
  • Liddle syndrome 2, MIM# 618114
Tags
Green Green List (high evidence)
SDCCAG8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 16, MIM# 615993
  • MONDO:0014444
  • Senior-Loken syndrome 7, MIM# 613615
  • MONDO:0013326
  • Nephronophthisis
Tags
Green Green List (high evidence)
SEC61A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
Tags
Green Green List (high evidence)
SEC63
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Polycystic liver disease 2, MIM#617004
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
  • RENI syndrome (MIM#617575)
Tags
Green Green List (high evidence)
SHROOM4
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719
Tags
Green Green List (high evidence)
SLC12A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 1, OMIM #601678
Tags
Green Green List (high evidence)
SLC12A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gitelman syndrome, MIM# 263800
Tags
Green Green List (high evidence)
SLC20A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related
Tags
Green Green List (high evidence)
SLC22A12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricemia, renal, MIM# 220150, MONDO:0020728
Tags
Green Green List (high evidence)
SLC2A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
Tags
Green Green List (high evidence)
SLC2A9
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricaemia, renal, 2, MIM# 612076
Tags
Green Green List (high evidence)
SLC34A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286
  • Hypercalcaemia, infantile, 2 MIM#616963
Tags
Green Green List (high evidence)
SLC34A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypophosphataemic rickets with hypercalciuria, (MIM#241530)
Tags
Green Green List (high evidence)
SLC3A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystinuria, MIM# 220100
Tags
Green Green List (high evidence)
SLC4A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590
  • MONDO:0012700
  • MONDO:0008368
  • Distal renal tubular acidosis 1, MIM# 179800
Tags
Green Green List (high evidence)
SLC4A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Hemiplegic migraine
  • Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278
Tags
Green Green List (high evidence)
SLC5A2
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal glucosuria, MIM# 233100
Tags
Green Green List (high evidence)
SLC6A19
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperglycinuria, MIM# 138500
  • Hartnup disorder, MIM# 234500
  • Iminoglycinuria, MIM# 242600
Tags
Green Green List (high evidence)
SLC7A7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Phenotypes
  • Lysinuric protein intolerance, MIM# 222700
Tags
Green Green List (high evidence)
SLC7A9
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cystinuria, MIM# 220100
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)
SON
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ZTTK syndrome, MIM# 617140
Tags
Green Green List (high evidence)
STRA6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microphthalmia, isolated, with coloboma 8, MIM#601186
Tags
Green Green List (high evidence)
STRADA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy
  • OMIM #611087
Tags
Green Green List (high evidence)
STX16
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Pseudohypoparathyroidism, type IB, MIM#603233
Tags
Green Green List (high evidence)
TBC1D1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
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)
TBCE
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410
Tags
Green Green List (high evidence)
TBX18
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2, MIM# 143400
Tags
Green Green List (high evidence)
TBX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related
  • Combined skeletal-kidney dysplasia syndrome
Tags
Green Green List (high evidence)
TCTN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 24, MIM# 616654
  • MONDO:0014724
  • Meckel syndrome 8, MIM# 613885
  • MONDO:0013482
Tags
Green Green List (high evidence)
TCTN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 18, MIM# 614815
  • MONDO:0013896
  • Mohr-Majewski syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TFAP2A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Branchiooculofacial syndrome, MIM# 113620
Tags
Green Green List (high evidence)
TMEM138
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 16, MIM# 614465
  • MONDO:0013764
Tags
Green Green List (high evidence)
TMEM216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 2, MIM# 608091
  • Meckel syndrome 2, MIM# 603194
Tags
Green Green List (high evidence)
TMEM231
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 20, MIM# 614970
  • MONDO:0013994
  • Meckel syndrome 11, MIM# 615397
  • MONDO:0014164
Tags
Green Green List (high evidence)
TMEM237
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 14, MIM# 614424
Tags
Green Green List (high evidence)
TMEM260
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Structural heart defects and renal anomalies syndrome, MIM# 617478
Tags
Green Green List (high evidence)
TMEM67
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 11, MIM# 613550
  • Joubert syndrome 6, MIM# 610688
  • Meckel syndrome 3, MIM# 607361
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)
TOP2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296
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)
TRAF3IP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Senior-Loken syndrome 9, MIM# 616629
  • MONDO:0014712
Tags
Green Green List (high evidence)
TRAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
  • VACTERL
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)
TRPM6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesaemia 1, intestinal (MIM#602014)
Tags
Green Green List (high evidence)
TRPM7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related
Tags
Green Green List (high evidence)
TSC1
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
TSC2
2 reviews
1 green 		Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • KidGen_Cystic v38.1.0
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Tags
Green Green List (high evidence)
TSEN2
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • TRACK syndrome
Tags
Green Green List (high evidence)
TTC21B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 12, MIM# 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819
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)
TTC8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, MIM# 615985
Tags
Green Green List (high evidence)
TTR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • hereditary ATTR amyloidosis MONDO:0017132
Tags
Green Green List (high evidence)
TULP3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 14, MIM# 619879
Tags
Green Green List (high evidence)
UMOD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
UMOD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD)
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Medullary cystic kidney disease 2, MIM# 603860
Tags
Green Green List (high evidence)
UMOD
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000
Tags
Green Green List (high evidence)
VDR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, MIM# 277440
Tags
Green Green List (high evidence)
VHL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • von Hippel-Lindau syndrome, MIM# 193300
Tags
Green Green List (high evidence)
VIPAS39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Tags
Green Green List (high evidence)
WBP11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227
  • malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Tags
Green Green List (high evidence)
WDPCP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 15, MIM# 615992
  • OFD
  • Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Green Green List (high evidence)
WDR19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 13, MIM# 614377
  • Senior-Loken syndrome 8, MIM# 616307
Tags
Green Green List (high evidence)
WDR35
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091
  • MONDO:0013569
  • Cranioectodermal dysplasia 2, MIM# 613610
Tags
Green Green List (high evidence)
WDR44
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliopathy, MONDO:0005308, WDR44-related
Tags
Green Green List (high evidence)
WDR60
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503
Tags
Green Green List (high evidence)
WDR72
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Expert Review
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211
  • Distal RTA
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)
WLS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Zaki syndrome, MIM#619648
Tags
Green Green List (high evidence)
WNK1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Tags
Green Green List (high evidence)
WNK1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism 2C (PHA2C), MIM#614492
Tags
Green Green List (high evidence)
WNK4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIB, MIM# 614491
Tags
Green Green List (high evidence)
WNK4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIB, MIM# 614491
Tags
Green Green List (high evidence)
WNT5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal dominant 1, MIM#180700
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)
XDH
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Xanthinuria, type I (MIM#278300)
Tags
Green Green List (high evidence)
XPNPEP3
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis-like nephropathy 1, OMIM #613159
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
Green Green List (high evidence)
ZIC3
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • VACTERL association, X-linked, MIM#314390
Tags
Green Green List (high evidence)
ZMYM2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522
Tags
Amber Amber List (moderate evidence)
ADAMTS13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Tags
Amber Amber List (moderate evidence)
ADAMTS9
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related
Tags
Amber Amber List (moderate evidence)
ADCY10
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Amber
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalciuria, absorptive, susceptibility to, MIM#143870
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)
B9D2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 10, MIM# 614175
Tags
Amber Amber List (moderate evidence)
BBIP1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
Tags
Amber Amber List (moderate evidence)
BCORL1
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related
Tags
Amber Amber List (moderate evidence)
C1GALT1C1
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110
Tags
Amber Amber List (moderate evidence)
CEP120
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Tags
Amber Amber List (moderate evidence)
CEP41
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 15, MIM# 614464
Tags
Amber Amber List (moderate evidence)
CLCNKA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • KidGen_Tubulopathies v38.1.0
  • Expert Review Amber
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, type 4b, digenic
  • OMIM #613090
Tags
Amber Amber List (moderate evidence)
COQ7
3 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Expert list
Phenotypes
  • Coenzyme Q10 deficiency, primary, 8, MIM#616733
Tags
Amber Amber List (moderate evidence)
CYS1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Polycystic kidney disease, MONDO:0020642
Tags
Amber Amber List (moderate evidence)
DACT1
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert list
Phenotypes
  • Townes-Brocks syndrome 2, MIM#617466
Tags
Amber Amber List (moderate evidence)
DDX59
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome V (MIM#174300)
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)
FGF20
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Renal hypodysplasia/aplasia 2, MIM#615721
Tags
Amber Amber List (moderate evidence)
FOXC1
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of the kidney and urinary tract (CAKUT)
Tags
Amber Amber List (moderate evidence)
FOXC1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of the kidney and urinary tract (CAKUT)
Tags
Amber Amber List (moderate evidence)
FXYD2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • KidGen_Magnesium v38.1.0
  • Expert Review Amber
Phenotypes
  • Renal hypomagnesemia 2 MONDO:0007937
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)
KL
1 review
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CalcPhos v38.1.0
  • Expert Review Amber
Phenotypes
  • Hyperphosphatemia
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994
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)
NDUFAF6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
Phenotypes
  • Fanconi renotubular syndrome 5, MIM# 618913
Tags
Amber Amber List (moderate evidence)
OXGR1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374
Tags
Amber Amber List (moderate evidence)
PDIA6
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
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)
PTCH1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Bladder exstrophy and epispadias complex (BEEC)
Tags
Amber Amber List (moderate evidence)
RCAN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • FSGS
  • proteinuria
Tags
Amber Amber List (moderate evidence)
SEC16B
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related
Tags
Amber Amber List (moderate evidence)
SIX5
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Branchiootorenal syndrome 2, MIM# 610896
Tags
  • disputed
Amber Amber List (moderate evidence)
SLC1A1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Dicarboxylic aminoaciduria, MIM# 222730
Tags
Amber Amber List (moderate evidence)
SLC36A2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • Iminoglycinuria, digenic MIM#242600
  • Hyperglycinuria MIM#138500
  • Disorders of amino acid transport
Tags
Amber Amber List (moderate evidence)
SLIT2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Amber Amber List (moderate evidence)
SOX11
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Amber Amber List (moderate evidence)
SRGAP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Amber Amber List (moderate evidence)
THBD
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}
  • OMIM #612926
Tags
Amber Amber List (moderate evidence)
TMEM107
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 13 (MIM#617562)
  • Orofaciodigital syndrome XVI (MIM#617563)
Tags
Amber Amber List (moderate evidence)
TSHZ3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • congenital anomaly of kidney and urinary tract MONDO:0019719
Tags
Amber Amber List (moderate evidence)
WNT9B
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal agenesis/hypoplasia/dysplasia, no OMIM #
Tags
Amber Amber List (moderate evidence)
ZNF423
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 19, OMIM# 614844
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)
ATP6V1C2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Expert Review Red
  • Literature
Phenotypes
  • Distal renal tubular acidosis
Tags
Red Red List (low evidence)
ATXN10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis
Tags
Red Red List (low evidence)
B9D1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Meckel syndrome 9, OMIM #614209
  • Joubert syndrome 27, OMIM #617120
Tags
Red Red List (low evidence)
BICC1
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}
  • OMIM #601331
Tags
Red Red List (low evidence)
BMP7
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Red Red List (low evidence)
C2CD3
3 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
Tags
Red Red List (low evidence)
C5orf42
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 17, MIM#614615
  • Orofaciodigital syndrome VI, MIM# 277170
Tags
Red Red List (low evidence)
CBWD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • CAKUT
Tags
Red Red List (low evidence)
CCDC28B
1 review
1 red 		Other
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
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)
CDC5L
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Red Red List (low evidence)
CEP104
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 25, MIM# 616781
  • MONDO:0014770
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)
CHD1L
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
  • disputed
Red Red List (low evidence)
CHRM5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related
Tags
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)
DSTYK
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of kidney and urinary tract 1, MIM# 610805
Tags
  • disputed
Red Red List (low evidence)
EGF
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_Magnesium v38.1.0
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesemia 4, renal, MIM#611718
Tags
Red Red List (low evidence)
EGFR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Inflammatory skin and bowel disease, neonatal, 2
  • OMIM # 616069
Tags
Red Red List (low evidence)
EVC
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome, MIM#225500
Tags
Red Red List (low evidence)
EVC2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Ellis van Creveld syndrome
Tags
Red Red List (low evidence)
EZH2
3 reviews
2 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FGF10
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • LADD syndrome
  • OMIM #149730
Tags
Red Red List (low evidence)
FGF8
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia
  • OMIM #612702
Tags
Red Red List (low evidence)
FGFR1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FGFR2
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FGFR3
3 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
Phenotypes
  • LADD syndrome, MIM#149730
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)
FOXC1
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Axenfeld-Rieger syndrome, type 3, MIM#602482
Tags
Red Red List (low evidence)
FOXC2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
  • OMIM #153400
Tags
Red Red List (low evidence)
HOXA4
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
HOXB6
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
HYLS1
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Hydrolethalus syndrome (MIM#236680)
  • Joubert syndrome
Tags
  • founder
Red Red List (low evidence)
ICK
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Endocrine-cerebroosteodysplasia, MIM# 612651
Tags
Red Red List (low evidence)
IFT57
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome XVIII, MIM#617927
Tags
Red Red List (low evidence)
IFT81
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly
  • OMIM #617895
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)
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)
KIAA0556
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 26, MIM# 616784
Tags
Red Red List (low evidence)
KIAA0586
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546
  • Joubert syndrome 23, MIM# 616490
Tags
Red Red List (low evidence)
KIAA0753
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib skeletal dysplasia
  • Orofaciodigital syndrome XV, MIM# 617127
  • Jeune ATD
Tags
Red Red List (low evidence)
KIF14
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Tags
Red Red List (low evidence)
KIF7
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Acrocallosal syndrome, MIM# 200990
  • Joubert syndrome 12, MIM# 200990
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)
LRP5
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Polycystic liver disease 4 with or without kidney cysts, MIM# 617875
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)
PDE6D
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 22, OMIM #615665
Tags
Red Red List (low evidence)
POC1B
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Cone-rod dystrophy 20, MIM#615973
Tags
Red Red List (low evidence)
SEMA3A
2 reviews
1 green 1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
SIX1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Branchiootic syndrome 3, MIM#608389
  • Deafness, autosomal dominant 23, MIM# 605192
Tags
Red Red List (low evidence)
SIX2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Red Red List (low evidence)
SLC26A1
2 reviews
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_MetabolicRenal v38.1.0
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis, calcium oxalate, MIM#167030
Tags
Red Red List (low evidence)
SLC41A1
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis-like nephropathy 2, MIM# 619468
Tags
Red Red List (low evidence)
SLC6A20
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Expert list
Phenotypes
  • Hyperglycinuria, MIM# 138500
Tags
Red Red List (low evidence)
SLC6A6
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Primary hyperoxaluria, MONDO:0002474, SLC26A6-related
Tags
Red Red List (low evidence)
SLC9A3R1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Tags
  • refuted
Red Red List (low evidence)
SOX17
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Vesicoureteral reflux 3
  • OMIM #613674
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)
TBC1D31
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related
Tags
Red Red List (low evidence)
TCTN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 13, MIM# 614173
Tags
Red Red List (low evidence)
TNXB
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Vesicoureteral reflux 8, MIM# 615963
Tags
Red Red List (low evidence)
TRIM32
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red Red List (low evidence)
TRPV5
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • TRPV5-related hypercalciuria (MONDO:0009550)
Tags
Red Red List (low evidence)
UMOD
3 reviews
2 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
UPK3A
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
USP33
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Renal hypertension MONDO:0001105
Tags
Red Red List (low evidence)
VTN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Atypical haemolytic uraemic syndrome
Tags
Red Red List (low evidence)
WDR34
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Tags
Red Red List (low evidence)
WNT4
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • SERKAL syndrome
  • OMIM #611812
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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