Nefrología

PANELES:

Panel de Acidosis Tubular Renal
ATP6V1B1Renal tubular acidosis with deafness
ATP6V0A4Renal tubular acidosis, distal
CA2Osteopetrosis, with renal tubular acidosis
SLC4A1Cryohydrocytosis, Ovalcytosis, Renal tubular acidosis, distal, with hemolytic anemia, Spherocytosis
SLC4A4Renal tubular acidosis, proximal
Panel de Ciliopatía

AHI1

Joubert syndrome

ALMS1

Alström syndrome

ANKS6

Nephronophthisis

ARL6

Bardet-Biedl syndrome, Retinitis pigmentosa

ARL13B

Joubert syndrome

ARMC4

Ciliary dyskinesia

B9D1

Meckel syndrome

B9D2

Meckel syndrome

BBS1

Bardet-Biedl syndrome

BBS2

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS4

Bardet-Biedl syndrome

BBS5

Bardet-Biedl syndrome

BBS7

Bardet-Biedl syndrome

BBS9

Bardet-Biedl syndrome

BBS10

Bardet-Biedl syndrome

BBS12

Bardet-Biedl syndrome

C5ORF42

Joubert syndrome, Orofaciodigital syndrome

C21ORF59

Ciliary dyskinesia

CC2D2A

COACH syndrome, Joubert syndrome, Meckel syndrome

CCDC39

Ciliary dyskinesia

CCDC40

Ciliary dyskinesia

CCDC65

Ciliary dyskinesia

CCDC103

Ciliary dyskinesia

CCDC114

Ciliary dyskinesia

CCNO

Ciliary dyskinesia

CENPF

Ciliary dyskinesia -Lethal Ciliopathy

CEP41

Joubert syndrome

CEP83

Nephronophthisis

CEP164

Nephronophthisis

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

CFTR

Cystic fibrosis

CSPP1

Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome

DCDC2

Deafness

DNAAF1

Ciliary dyskinesia

DNAAF2

Ciliary dyskinesia

DNAAF3

Primary ciliary dyskinesia

DNAAF5

Ciliary dyskinesia

DNAH5

Ciliary dyskinesia

DNAH11

Ciliary dyskinesia

DNAI1

Ciliary dyskinesia

DNAI2

Ciliary dyskinesia

DNAL1

Ciliary dyskinesia

DRC1

Primary ciliary dyskinesia

DYX1C1

Ciliary dyskinesia

GLIS2

Nephronophthisis

HYDIN

Primary ciliary dyskinesia

IFT172

Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly

INPP5E

Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)

INVS

Nephronophthisis

IQCB1

Senior-Loken syndrome

KIAA0586

Joubert syndrome, Short rib thoracic dysplasia with polydactyly

KIF7

Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome

LRRC6

Ciliary dyskinesia

MKKS

Bardet-Biedl syndrome, McKusick-Kaufman syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NEK8

Nephronophthisis

NME8

Ciliary dyskinesia

NPHP1

Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

NPHP4

Nephronophthisis, Senior-Loken syndrome

OFD1

Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome

RPGR

Retinitis pigmentosa

RPGRIP1L

COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier

RSPH1

Ciliary dyskinesia

RSPH4A

Ciliary dyskinesia

RSPH9

Ciliary dyskinesia

SDCCAG8

Bardet-Biedl syndrome, Senior-Loken syndrome

SPAG1

Primary ciliary dyskinesia

TCTN1

Joubert syndrome

TCTN2

Joubert syndrome, Meckel syndrome

TCTN3

Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)

TMEM67

COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis

TMEM107

Joubert syndrome

TMEM138

Joubert syndrome

TMEM216

Joubert syndrome, Meckel syndrome

TMEM231

Joubert syndrome, Meckel syndrome

TMEM237

Joubert syndrome

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TTC8

Bardet-Biedl syndrome, Retinitis pigmentosa

TTC21B

Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia

WDR19

Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly

ZMYND10

Ciliary dyskinesia

ZNF423

Joubert syndrome, Nephronophthisis

Panel de Diabetes Insípida

AQP2

Diabetes insipidus, nephrogenic

AVP

Diabetes insipidus, neurohypophyseal

AVPR2

Diabetes insipidus, nephrogenic

Panel de Disquinesia Ciliar Primaria

ARMC4

Ciliary dyskinesia

C21ORF59

Ciliary dyskinesia

CCDC39

Ciliary dyskinesia

CCDC40

Ciliary dyskinesia

CCDC65

Ciliary dyskinesia

CCDC103

Ciliary dyskinesia

CCDC114

Ciliary dyskinesia

CCNO

Ciliary dyskinesia

CENPF

Ciliary dyskinesia -Lethal Ciliopathy

CFTR

Cystic fibrosis

DNAAF1

Ciliary dyskinesia

DNAAF2

Ciliary dyskinesia

DNAAF3

Primary ciliary dyskinesia

DNAAF5

Ciliary dyskinesia

DNAH5

Ciliary dyskinesia

DNAH11

Ciliary dyskinesia

DNAI1

Ciliary dyskinesia

DNAI2

Ciliary dyskinesia

DNAL1

Ciliary dyskinesia

DRC1

Primary ciliary dyskinesia

DYX1C1

Ciliary dyskinesia

HYDIN

Primary ciliary dyskinesia

INVS

Nephronophthisis

LRRC6

Ciliary dyskinesia

NME8

Ciliary dyskinesia

OFD1

Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome

RPGR

Retinitis pigmentosa

RSPH1

Ciliary dyskinesia

RSPH4A

Ciliary dyskinesia

RSPH9

Ciliary dyskinesia

SPAG1

Primary ciliary dyskinesia

ZMYND10

Ciliary dyskinesia

Panel de Enfermedad del Riñón Poliquístico

BICC1

Renal dysplasia, cystic

LRP5

Exudative vitreoretinopathy, Hyperostosis, endosteal, LRP5 primary osteoporosis, Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease

NOTCH2

Alagille syndrome, Hajdu-Cheney syndrome

PKD1

Polycystic kidney disease

PKD2

Polycystic kidney disease

PKHD1

Polycystic kidney disease

PRKCSH

Polycystic liver disease

SEC63

Polycystic liver disease

Panel de Enfermedades Quísticas del Riñón

BICC1

Renal dysplasia, cystic

EYA1

Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome

HNF1B

Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome

PAX2

Isolated renal hypoplasia, Papillorenal syndrome

PKD1

Polycystic kidney disease

PKD2

Polycystic kidney disease

PKHD1

Polycystic kidney disease

SIX5

Branchiootorenal syndrome

UMOD

Familial juvenile hyperuricemic nephropathy, Glomerulocystic kidney disease with hyperuricemia and isosthenuria

Panel de Hiperoxaluria Primaria

AGXT

Hyperoxaluria

GRHPR

Hyperoxaluria

HOGA1

Hyperoxaluria

Panel de Hipertensión Arterial Pulmonar

 

Panel de Hipomagnesemia

CLDN16

Hypomagnesemia, renal

CLDN19

Hypomagnesemia, renal

CNNM1

Hypomagnesemia

CNNM2

Hypomagnesemia, renal

CNNM4

Jalili syndrome

EGF

Hypomagnesemia, renal

FXYD2

Hypomagnesemia, renal

HNF1B

Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome

KCNA1

Episodic ataxia/myokymia syndrome

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MMGT1

Hypomagnesemia

NIPA2

Hypomagnesemia

SLC12A3

Gitelman syndrome

SLC41A2

Hypomagnesemia

SLC41A3

Hypomagnesemia

TRPM6

Hypomagnesemia, intestinal

TRPM7

Amyotrophic lateral sclerosis-parkinsonism-dementia complex

Panel de Malformaciones Renales

ACE

ACE serum levels, Renal tubular dysgenesis

BMP4

Microphthalmia, syndromic, Orofacial cleft

DSTYK

Congenital anomalies of the kidney and urinary tract

EYA1

Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome

FANCB

Fanconi anemia

FOXC2

Lymphedema-distichiasis syndrome

FREM1

Bifid nose, Manitoba oculotrichoanal syndrome, Trigonocephaly

GATA3

Hypomagnesemia, renal

HNF1B

Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome

PAX2

Isolated renal hypoplasia, Papillorenal syndrome

REN

Hyperuricemic nephropathy

RET

Central hypoventilation syndrome, congenital, Hirschsprung disease, Medullary thyroid carcinoma, Multiple endocrine neoplasia, Pheochromocytoma

SIX1

Branchiootic syndrome, Branchiootorenal syndrome, Deafness

SIX5

Branchiootorenal syndrome

WT1

Denys-Drash syndrome, Frasier syndrome, Wilms tumor

Panel de Nefronoptisis

ANKS6

Nephronophthisis

CEP83

Nephronophthisis

CEP164

Nephronophthisis

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

DCDC2

Deafness

GLIS2

Nephronophthisis

IFT172

Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly

INVS

Nephronophthisis

IQCB1

Senior-Loken syndrome

NEK8

Nephronophthisis

NPHP1

Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

NPHP4

Nephronophthisis, Senior-Loken syndrome

RPGRIP1L

COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier

SDCCAG8

Bardet-Biedl syndrome, Senior-Loken syndrome

TMEM67

COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis

TTC21B

Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia

WDR19

Asphyxiating thoracic dysplasia (ATD; Jeune), Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly

ZNF423

Joubert syndrome, Nephronophthisis

Panel de Obesidad Monogénica

ALMS1

Alström syndrome

ARL6

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS1

Bardet-Biedl syndrome

BBS2

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS4

Bardet-Biedl syndrome

BBS5

Bardet-Biedl syndrome

BBS7

Bardet-Biedl syndrome

BBS9

Bardet-Biedl syndrome

BBS10

Bardet-Biedl syndrome

BBS12

Bardet-Biedl syndrome

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

CRTC1

Mucoepidermoid salivary gland carcinoma

CUL4B

Mental retardation, syndromic, Cabezas

DYRK1B

Abdominal obesity-metabolic syndrome

GNAS

Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism

LEP

Leptin deficiency

LEPR

Leptin receptor deficiency

MAGEL2

Schaaf-Yang syndrome (Prader-Willi-like syndrome)

MC3R

Obesity due to MC3R deficiency

MC4R

Obesity

MKKS

Bardet-Biedl syndrome, McKusick-Kaufman syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NR0B2

Obesity, mild, early-onset

NTRK2

Obesity, hyperphagia, and developmental delay

PCSK1

Proprotein convertase 1/3 deficiency

PHF6

Borjeson-Forssman-Lehmann syndrome

POMC

Proopiomelanocortin deficiency

PPARG

Insulin resistance, Lipodystrophy, familial, partial

PYY

Obesity

SDCCAG8

Bardet-Biedl syndrome, Senior-Loken syndrome

SIM1

6q16 deletion syndrome, Obesity due to SIM1 deficiency, Prader-Willi-like syndrome

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TTC8

Bardet-Biedl syndrome, Retinitis pigmentosa

UCP3

Obesity, severe, and type II diabetes

VPS13B

Cohen syndrome

WDPCP

Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier

Panel de Pseudohipoaldosteronismo

CUL3

Pseudohypoaldosteronism

HSD11B2

Cortisol 11-beta-ketoreductase deficiency

KLHL3

Pseudohypoaldosteronism

NR3C2

Hypertension, early-onset, with exacerbation in pregnancy, Pseudohypoaldosteronism

SCNN1A

Bronchiectasis with or without elevated sweat chloride, Pseudohypoaldosteronism

SCNN1B

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCNN1G

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

WNK1

Neuropathy, hereditary sensory and autonomic, Pseudohypoaldosteronism

WNK4

Pseudohypoaldosteronism

Panel de Raquitismo Hipofosfatémico

CLCN5

Dent disease, Hypophosphatemic rickets,, Nephrolithiasis, I, Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis

DMP1

Hypophosphatemic rickets

ENPP1

Arterial calcification, Hypophosphatemic rickets

FAH

Tyrosinemia

FGF23

Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic

KL

Tumoral calcinosis, hyperphosphatemic

PHEX

Hypophosphatemic rickets

SLC34A1

Fanconi renotubular syndrome, Nephrolithiasis/osteoporosis, hypophosphatemic

SLC34A3

Hypophosphatemic rickets with hypercalciuria

VDR

Vitamin D-dependent rickets

Panel de Síndrome de Alport

CD151

Raph blood group

COL4A3

Alport syndrome

COL4A4

Alport syndrome

COL4A5

Alport syndrome

COL4A6

Deafness, with cochlear malformation

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

Panel de Síndrome de Bardet-Biedl

ALMS1

Alström syndrome

ARL6

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS1

Bardet-Biedl syndrome

BBS2

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS4

Bardet-Biedl syndrome

BBS5

Bardet-Biedl syndrome

BBS7

Bardet-Biedl syndrome

BBS9

Bardet-Biedl syndrome

BBS10

Bardet-Biedl syndrome

BBS12

Bardet-Biedl syndrome

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

IFT172

Asphyxiating thoracic dysplasia (ATD; Jeune), Retinitis pigmentosa, Short -rib thoracic dysplasia with or without polydactyly

MKKS

Bardet-Biedl syndrome, McKusick-Kaufman syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

SDCCAG8

Bardet-Biedl syndrome, Senior-Loken syndrome

TMEM67

COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TTC8

Bardet-Biedl syndrome, Retinitis pigmentosa

Panel de Síndrome de Bartter

BSND

Bartter syndrome, Sensorineural deafness with mild renal dysfunction

CASR

Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism, Hypocalcemia, Neonatal hyperparathyroidism

CLCNKA

Bartter syndrome

CLCNKB

Bartter syndrome

GNA11

Hypocalcemia, Hypocalciuric hypercalcemia

KCNJ1

Bartter syndrome, antenatal

SLC12A1

Bartter syndrome, antenatal

SLC12A3

Gitelman syndrome

Panel de Síndrome Branquio-Oto-Renal

EYA1

Branchiootic syndrome, Branchiootorenal syndrome, Otofaciocervical syndrome

SIX1

Branchiootic syndrome, Branchiootorenal syndrome, Deafness

SIX5

Branchiootorenal syndrome

TFAP2A

Branchiooculofacial sydrome

Panel de Síndrome de Joubert

AHI1

Joubert syndrome

ARL13B

Joubert syndrome

B9D1

Meckel syndrome

B9D2

Meckel syndrome

C5ORF42

Joubert syndrome, Orofaciodigital syndrome

CC2D2A

COACH syndrome, Joubert syndrome, Meckel syndrome

CEP41

Joubert syndrome

CEP164

Nephronophthisis

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

CSPP1

Jeune Asphyxiating Thoracic Dystrophy, Joubert syndrome

INPP5E

Joubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)

KIAA0586

Joubert syndrome, Short rib thoracic dysplasia with polydactyly

KIF7

Acrocallosal syndrome, Al-Gazali-Bakalinova syndrome, Hydrolethalus syndrome, Joubert syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NPHP1

Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

OFD1

Joubert syndrome, Orofaciodigital syndrome, Retinitis pigmentosa, Simpson-Golabi-Behmel syndrome

RPGRIP1L

COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier

TCTN1

Joubert syndrome

TCTN2

Joubert syndrome, Meckel syndrome

TCTN3

Joubert syndrome, Orofaciodigital syndrome (Mohr-Majewski syndrome)

TMEM67

COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis

TMEM107

Joubert syndrome

TMEM138

Joubert syndrome

TMEM216

Joubert syndrome, Meckel syndrome

TMEM231

Joubert syndrome, Meckel syndrome

TMEM237

Joubert syndrome

TTC21B

Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia

ZNF423

Joubert syndrome, Nephronophthisis

Panel de Síndrome de Liddles

SCNN1B

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

SCNN1G

Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism

Panel de Síndrome de Meckel

B9D1

Meckel syndrome

B9D2

Meckel syndrome

CC2D2A

COACH syndrome, Joubert syndrome, Meckel syndrome

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

RPGRIP1L

COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifier

TCTN2

Joubert syndrome, Meckel syndrome

TMEM67

COACH syndrome, Joubert syndrome, Meckel syndrome, Nephronophthisis

TMEM216

Joubert syndrome, Meckel syndrome

TMEM231

Joubert syndrome, Meckel syndrome

Panel de Síndrome Nefrótico

ACTN4

Focal segmental glomerulosclerosis

ADCK4

Nephrotic syndrome

ANLN

Focal segmental glomerulosclerosis

APOL1

Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

ARHGAP24

Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

ARHGDIA

Nephrotic syndrome

CD2AP

Glomerulosclerosis, focal segmental

COL4A3

Alport syndrome

COL4A4

Alport syndrome

COL4A5

Alport syndrome

COQ2

Coenzyme Q10 deficiency

CRB2

Focal segmental glomerulosclerosis, Ventriculomegaly with cystic kidney disease

DGKE

Nephrotic syndrome

EMP2

Nephrotic syndrome

INF2

Charcot-Marie-Tooth disease, Glomerulosclerosis

ITGA3

Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

LAMB2

Nephrotic syndrome, Pierson syndrome

LMX1B

Nail-patella syndrome

MYH9

Epstein syndrome, Fechtner syndrome, Macrothrombocytopenia and progressive sensorineural deafness, May-Hegglin anomaly, Sebastian syndrome

MYO1E

Focal segmental glomerulosclerosis

NPHS1

Nephrotic syndrome

NPHS2

Nephrotic syndrome

PLCE1

Nephrotic syndrome

PTPRO

Nephrotic syndrome

SCARB2

Epilepsy, progressive myoclonic

SMARCAL1

Schimke immunoosseous dysplasia

TRPC6

Focal segmental glomerulosclerosis

TTC21B

Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia

WT1

Denys-Drash syndrome, Frasier syndrome, Wilms tumor

Panel de Síndrome de Senior-Loken

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

INVS

Nephronophthisis

IQCB1

Senior-Loken syndrome

NPHP1

Joubert syndrome, Nephronophthisis, Senior-Loken syndrome

NPHP3

Meckel syndrome, Nephronophthisis, Renal-hepatic-pancreatic dysplasia

NPHP4

Nephronophthisis, Senior-Loken syndrome

SDCCAG8

Bardet-Biedl syndrome, Senior-Loken syndrome

Panel de Síndrome Urémico Hemolítico

ADAMTS13

Schulman-Upshaw syndrome, Thrombotic thrombocytopenic purpura, familial

C3

Complement component 3 deficiency, Hemolytic uremic syndrome, atypical

CD46

Hemolytic uremic syndrome, atypical

CFB

Complement factor B deficiency, Hemolytic uremic syndrome, atypical

CFH

Complement factor H deficiency, Hemolytic uremic syndrome, atypical

CFHR1

Hemolytic uremic syndrome, atypical

CFHR2

Complement system

CFHR3

Hemolytic uremic syndrome, atypical

CFHR4

Hemolytic uremic syndrome, atypical

CFHR5

Atypical hemolytic-uremic syndrome with anti-factor H antibodies, C3 glomerulonephritis

CFI

Complement factor I deficiency, Hemolytic uremic syndrome, atypical

DGKE

Nephrotic syndrome

THBD

Hemolytic uremic syndrome, atypical, Thrombophilia due to thrombomodulin defect

 

Clasificación de Variantes

 

EXOMA.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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