Endocrinología

PANELES:

Panel Completo de Diabetes Monogénica
ABCC8Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced
BLKMaturity onset diabetes of the young
EIF2AK3SED, Wolcott-Rallison type
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathy
G6PC2Hyperinsulinism
GCKDiabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidism
GLUD1Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia
HADH3-hydroxyacyl-CoA dehydrogenase deficiency
HNF1ALiver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young
INSDiabetes mellitus, permanent neonatal
INSRDonohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome
KCNJ11Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia
KLF11Maturity onset diabetes of the young
NEUROD1Maturity onset diabetes of the young
NEUROG3Diarrhea, malabsorptive, congenital
PAX4Diabetes mellitus
PDX1Neonatal diabetes mellitus, Pancreatic agenesis
PPARGInsulin resistance, Lipodystrophy, familial, partial
SLC2A2Fanconi-Bickel syndrome, Glycogen storage disease, Neonatal diabetes mellitus
SLC16A1Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, Monocarboxylate transporter 1 deficiency
UCP2Hyperinsulinism
WFS1Wolfram syndrome
Panel de Deficiencia de Glucocorticoides

MC2R

Glucocorticoid deficiency

MRAP

Glucocorticoid deficiency

NNT

Glucocorticoid deficiency

NR3C1

Glucocorticoid resistance

POMC

Proopiomelanocortin deficiency

STAR

Lipoid adrenal hyperplasia

Panel de Diabetes de la Juventud de Inicio en la Madurez (MODY)

ABCC8

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced

BLK

Maturity onset diabetes of the young

GCK

Diabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial

HNF1A

Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell

HNF1B

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

HNF4A

Congenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young

INS

Diabetes mellitus, permanent neonatal

KCNJ11

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia

KLF11

Maturity onset diabetes of the young

NEUROD1

Maturity onset diabetes of the young

PAX4

Diabetes mellitus

PDX1

Neonatal diabetes mellitus, Pancreatic agenesis

Panel de Genitalia Anormal / Trastornos del Desarrollo Sexual

AMH

Persistent Mullerian duct syndrome

AMHR2

Persistent Mullerian duct syndrome

ANOS1

Kallmann syndrome

AR

Androgen insensitivity

ARX

Corpus callosum, agenesis of, with abnormal genitalia, Epileptic encephalopathy, Hydranencephaly with abnormal genitalia, Lissencephaly, Mental retardation, Partington syndrome, Proud syndrome

ATRX

Alpha-thalassemia/mental retardation syndrome, Carpenter-Waziri syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Mental retardation-hypotonic facies syndrome, Smith-Fineman-Myers syndrome

BCOR

Microphthalmia, syndromic, Oculofaciocardiodental syndrome

CDKN1C

Beckwith-Wiedemann syndrome, IMAGE syndrome

CEP41

Joubert syndrome

CHD7

CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency

CREBBP

Rubinstein-Taybi syndrome

CYP11B1

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Glucocorticoid-remediable aldosteronism

CYP17A1

Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

CYP19A1

Aromatase deficiency

CYP21A2

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Hyperandrogenism, nonclassic , due to 21-hydroxylase deficiency

DHCR7

Smith-Lemli-Opitz syndrome

DYNC2H1

Asphyxiating thoracic dysplasia (ATD; Jeune), SRPS type 2 (Majewski), Short -rib thoracic dysplasia with or without polydactyly type 1, Short -rib thoracic dysplasia with or without polydactyly type 3

FIG4

Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome

FRAS1

Fraser syndrome

GATA4

Atrial septal defect, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Tetralogy of Fallot, Ventricular septal defect

GNRHR

Hypogonadotropic hypogonadism

HSD3B2

3-beta-hydroxysteroid dehydrogenase, II deficiency

HSD17B3

17-Beta hydroxysteroid dehydrogenase III deficiency

IL17RD

Hypogonadotropic hypogonadism

IRF6

Orofacial cleft, Popliteal pterygium syndrome, van der Woude syndrome

LHCGR

Leydig cell hypoplasia, Luteinizing hormone resistance, female, Precocious puberty, male

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NR5A1

46,XY sex reversal, Adrenocortical insufficiency, Premature ovarian failure

NR0B1

46,XY sex reversal, Adrenal hypoplasia, congenital

POR

Antley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

PROKR2

Hypogonadotropic hypogonadism

RSPO1

Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal

SOX9

46,XY sex reversal, Brachydactyly with anonychia (Cooks syndrome), Campomelic dysplasia

SRD5A2

Steroid 5-alpha-reductase 2 deficiency

SRY

46,XX disorder of sex development, 46,XY disorder of sex development

STAR

Lipoid adrenal hyperplasia

TACR3

Hypogonadotropic hypogonadism

WT1

Denys-Drash syndrome, Frasier syndrome, Wilms tumor

ZFPM2

46,XY sex reversal

Panel de Hiperparatiroidismo

AIRE

Autoimmune polyendocrinopathy syndrome

CASR

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

CDC73

Carcinoma, parathyroid, Hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome

CDKN1B

Multiple endocrine neoplasia

MEN1

Hyperparathyroidism, familial primary, Multiple endocrine neoplasia

RET

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

Panel de Hiperplasia Suprarrenal Congénita

CYP11B1

Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, Glucocorticoid-remediable aldosteronism

CYP17A1

Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

CYP21A2

Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Hyperandrogenism, nonclassic , due to 21-hydroxylase deficiency

HSD3B2

3-beta-hydroxysteroid dehydrogenase, II deficiency

POR

Antley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

PRKAR1A

Acrodysostosis, Carney complex, Myxoma, intracardiac, Pigmented nodular adrenocortical disease

STAR

Lipoid adrenal hyperplasia

Panel de Hipoglucemia, Hiperinsulinemia y Metabolismo de los Cuerpo Cetónicos

ABCC8

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced

ACAT1

Alpha-methylacetoacetic aciduria

FBP1

Fructose-1,6-bisphosphatase deficiency

GCK

Diabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial

GLUD1

Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia

HADH

3-hydroxyacyl-CoA dehydrogenase deficiency

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

HNF1A

Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell

HNF4A

Congenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young

INSR

Donohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome

KCNJ11

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia

OXCT1

Succinyl CoA:3-oxoacid CoA transferase deficiency

PCK1

Phosphoenolpyruvate carboxykinase 1 deficiency

PCK2

Phosphoenolpyruvate carboxykinase 2 deficiency

PDX1

Neonatal diabetes mellitus, Pancreatic agenesis

SLC16A1

Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, Monocarboxylate transporter 1 deficiency

UCP2

Hyperinsulinism

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 Hipotiroidismo y Resistencia a las Hormonas Tiroideas

DUOX2

Thyroid dyshormonogenesis

GNAS

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

HESX1

Pituitary hormone deficiency, combined, Septooptic dysplasia

NKX2-1

Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Thyroid cancer, nonmedullary

NKX2-5

Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous,

PAX8

Hypothyroidism, congenital, nongoitrous

POU1F1

Pituitary hormone deficiency, combined

PROP1

Pituitary hormone deficiency, combined

SLC5A5

Thyroid dyshormonogenesis

SLC16A2

Allan-Herndon-Dudley syndrome

SLC26A4

Deafness, Enlarged vestibular aqueduct, Pendred syndrome

TG

Thyroid dyshormonogenesis

THRA

 

THRB

Thyroid hormone resistance

TPO

Thyroid dyshormonogenesis

TSHB

Hypothyroidism, congenital, nongoitrous

TSHR

Hyperthyroidism, familial, gestational, Hyperthyroidism, nonautoimmune, Hypothyroidism, congenital, nongoitrous,

Panel de Insuficiencia Ovárica Prematura

CYP17A1

Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

CYP19A1

Aromatase deficiency

FOXL2

Blepharophimosis, epicanthus inversus, and ptosis, Premature ovarian failure

FSHR

Ovarian dysgenesis, Ovarian hyperstimulation syndrome

GALT

Galactosemia

GNAS

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

LHCGR

Leydig cell hypoplasia, Luteinizing hormone resistance, female, Precocious puberty, male

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

NR5A1

46,XY sex reversal, Adrenocortical insufficiency, Premature ovarian failure

POLG

Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis

POR

Antley-Bixler syndrome, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

STAR

Lipoid adrenal hyperplasia

WT1

Denys-Drash syndrome, Frasier syndrome, Wilms tumor

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 Síndrome de Kallmann

ANOS1

Kallmann syndrome

CHD7

CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency

FGF8

Hypogonadotropic hypogonadism

FGFR1

Hartsfield syndrome, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Pfeiffer syndrome, Trigonocephaly

GNRHR

Hypogonadotropic hypogonadism

PROK2

Hypogonadism, hypogonadotropic, Kallmann syndrome

PROKR2

Hypogonadotropic hypogonadism

TACR3

Hypogonadotropic hypogonadism

 

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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