Table Of ContentGENÉTICA MOLECULAR DE COLOMBIA
PRUEBAS DE ADN ORDENADAS POR ENFERMEDAD (English version only)
Gene
Enfermedad Disease OMIM Gen Comentario
OMIM
A
11‐@BETA‐HYDROXYLASE DEFICIENCY See ADRENAL HYPERPLASIA,
CONGENITAL, DUE TO STEROID 11‐
BETA‐HYDROXYLASE DEFICIENCY
11‐@BETA‐HYDROXYSTEROID
DEHYDROGENASE, TYPE 2
17‐@BETA HYDROXYSTEROID 264300 HSD17B3 (17‐@BETA 605573
DEHYDROGENASE 3 DEFICIENCY » HYDROXYSTEROID DEHYDROGENASE
PSEUDOHERMAPHRODITISM, MALE, WITH 3, ESTRADIOL 17‐BETA‐
GYNECOMASTIA » POLYCYSTIC OVARIAN DEHYDROGENASE,EDH17B3)
DISEASE DUE TO 17‐KETOSTEROID
REDUCTASE DEFICIENCY » 17‐@KETOSTEROID
REDUCTASE DEFICIENCY OF TESTIS
17‐@KETOSTEROID REDUCTASE DEFICIENCY See 17‐@BETA HYDROXYSTEROID
OF TESTIS DEHYDROGENASE 3 DEFICIENCY
17q21.31 MICRODELETION SYNDROME MAPT (MICROTUBULE‐ASSOCIATED 157140 Deletions
PROTEIN TAU)
18‐@HYDROXYLASE DEFICIENCY See CORTICOSTERONE
METHYLOXIDASE TYPE 1 DEFICIENCY
2‐ALPHA‐METHYL‐3‐HYDROXYBUTYRYL‐CoA 300438 HADH2 (HYDROXYACYL‐CoA 300256
DEHYDROGENASE DEFICIENCY DEHYDROGENASE TYPE 2, AMYLOID
BETA‐BINDING POLYPEPTIDE, ERAB,
2‐ALPHA‐METHYL‐3‐
HYDROXYBUTYRYL‐CoA
DEHYDROGENASE)
21‐ALPHA‐HYDROXYLASE DEFICIENCY See ADRENAL HYPERPLASIA,
CONGENITAL DUE TO 21‐
HYDROXYLASE DEFICIENCY, CAH1
22q11.2 DELETION SYNDROME See DIGEORGE SYNDROME, DGS
2‐ALPHA‐METHYLBUTYRYLGLYCINURIA » 2‐ 600301 ACADSB (ACYL‐CoA 600301
ALPHA‐METHYLBUTYRYL‐CoA DEHYDROGENASE,
DEHYDROGENASE DEFICIENCY, MBD SHORT/BRANCHED CHAIN)
3‐@HYDROXYACYL‐CoA DEHYDROGENASE 231530 HADH (3‐@HYDROXYACYL‐CoA 601609
DEFICIENCY » HADH DEFICIENCY » SCHAD DEHYDROGENASE, HADSC, SCHAD)
DEFICIENCY
3‐@METHYLCROTONYL‐CoA CARBOXYLASE 1 210200 MCCC1 (3‐@METHYLCROTONYL‐CoA 609010
DEFICIENCY » METHYLCROTONYLGLYCINURIA CARBOXYLASE 1; MCCA)
TYPE 1
3‐@METHYLCROTONYL‐CoA CARBOXYLASE 2 210210 MCCC2 (3‐@METHYLCROTONYL‐CoA 609014
DEFICIENCY » METHYLCROTONYLGLYCINURIA CARBOXYLASE 2; MCCB)
TYPE 2
3‐ALPHA‐METHYLGLUTACONICACIDURIA, 250950 AUH (AU‐SPECIFIC RNA‐BINDING 600529
TYPE I » 3‐ALPHA‐METHYLGLUTACONYL‐CoA PROTEIN, 3‐ALPHA‐
HYDRATASE DEFICIENCY » 3‐ALPHA‐MG‐CoA‐ METHYLGLUTACONYL ‐CoA
HYDRATASE DEFICIENCY » MGA, TYPE 1 HYDRATASE)
AARSKOG SYNDROME » FACIODIGITOGENITAL 305400 FGD1 305400
SYNDROME
ABETALIPOPROTEINEMIA » ACANTHOCYTOSIS 200100 MTP 157147
» BASSEN‐KORNZWEIG SYNDROME »
APOLIPOPROTEIN B DEFICIENCY »
MICROSOMAL TRIGLYCERIDE TRANSFER
PROTEIN DEFICIENCY » MTP DEFICIENCY
ACANTHOCYTOSIS SLC4A1 (BAND 3 OF RED CELL 109270
MEMBRANE, ERYTHROID PROTEIN
BAND 3, ANION EXCHANGE PROTEIN
1)
ACATALASEMIA » ACATALASIA » CATALASE 115500 CAT (CATALASE) 115500
DEFICIENCY
ACHALASIA‐ADDISONIANISM‐ALACRIMA 231550 AAAS (ALADIN, ADRACALIN) 605378
SYNDROME, AAA » TRIPLE‐A SYNDROME »
ALACRIMA‐ACHALASIA‐ADRENAL
INSUFFICIENCY NEUROLOGIC DISORDER »
GLUCOCORTICOID DEFICIENCY AND
ACHALASIA » ALLGROVE SYNDROME »
ADDISONIAN‐ACHALASIA SYNDROME »
HYPOADRENALISM WITH ACHALASIA »
ALACRIMA‐ACHALASIA‐ADDISONIANISM »
ACTH‐RESISTANT ADRENAL INSUFFICIENCY,
ACHALASIA AND ALACRIMA » ACHALASIA‐
ALACRIMA SYNDROME
ACHONDROGENESIS TYPE 1B » 600972 SLC26A2 (DTD SULFATE 606718
ACHONDROGENESIS, FRACCARO TYPE TRANSPORTER, DTDST)
ACHONDROGENESIS TYPE 2 200610 COL2A1 120140
ACHONDROPLASIA 100800 FGFR3 134934 2 Mutations: G380R, G375C
ACROCALLOSAL SYNDROME » SCHINZEL 200990 GLI3 (GLI‐KRUPPEL FAMILY MEMBER 165240 Deletions
ACROCALLOSAL SYNDROME 3)
ACROCAPITOFEMORAL DYSPLASIA, ACFD 607778 IHH (INDIAN HEDGEHOG) 600726
ACRO‐DERMATO‐UNGUAL‐LACRIMAL‐TOOTH 103285 P63 (TP63) 603273 Exons 5‐8, 13 and 14
SYNDROME » ADULT SYNDROME
ACROKERATOSIS VERRUCIFORMIS » HOPF 101900 ATP2A2 (ATP2B, SERCA2) 108740
DISEASE
ACROMESOMELIC DYSPLASIA, HUNTER‐ 201250 GDF5 (GROWTH / DIFFERENTIATION 601146
THOMPSON TYPE FACTOR 5, CDMP1, LAP4)
ACROMESOMELIC DYSPLASIA, MAROTEAUX 602875 NPR2 (NATRIURETIC PEPTIDE 108961
TYPE » ST. HELENA DYSPLASIA RECEPTOR B/GUANYLATE CYCLASE
B, ATRIAL NATRIURETIC PEPTIDE
RECEPTOR, TYPE B, ANPRB)
ACTH DEFICIENCY 201400 TBX19 (T‐BOX 19, T‐BOX FACTOR, 604614
PITUITARY)
ACTIN MYOPATHY 102610 ACTA1 (ACTIN) 102610
ACYL‐CoA DEHYDROGENASE, VERY LONG‐ 201475 ACADVL (ACYL‐CoA 609575
CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY DEHYDROGENASE, VERY LONG‐
CHAIN, VLCAD)
ADDISON DISEASE (X‐LINKED) » ADRENAL 300200 DAX1 (NROB1) 300200
HYPOPLASIA, CONGENITAL » CONGENITAL
ADRENOCORTICAL HYPOPLASIA WITH
HYPOGONADOTROPIC HYPOGONADISM
ADENOCARCINOMA OF LUNG, SOMATIC BRAF (V‐RAF MURINE SARCOMA 164757
VIRAL ONCOGENE HOMOLOG B1,
RAFB1)
ADENYLOSUCCINASE DEFICIENCY » 103050 ADSL (ADENYLOSUCCINATE LYASE) 103050 Preferentially on skin fibroblast culture for
SUCCINYLPURINEMIC AUTISM mutation analysis in proband, eventually blood
in PAX RNA tubes
ADRENAL HYPERPLASIA, CONGENITAL DUE TO 201910 CYP21A2 201910 Whole Gene and MLPA
21‐HYDROXYLASE DEFICIENCY, CAH1 » 21‐
ALPHA‐HYDROXYLASE DEFICIENCY » CYP21
DEFICIENCY
ADRENAL HYPERPLASIA, CONGENITAL DUE TO 201910 CYP21A2 201910 6 most common mutations: Pro30Leu, A/C 655‐
21‐HYDROXYLASE DEFICIENCY, CAH1 » 21‐ >G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg
ALPHA‐HYDROXYLASE DEFICIENCY » CYP21
DEFICIENCY
ADRENAL HYPERPLASIA, CONGENITAL, DUE 201750 POR (CYTOCHROME P450 124015
TO APPARENT COMBINED P450C17 AND OXIDOREDUCTASE)
P450C21 DEFICIENCY » ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO DEFECTS
IN SEVERAL STEROID‐BIOSYNTHETIC ENZYMES
» MALE PSEUDOHERMAPHRODITISM DUE TO
MULTIPLE MICROSOMAL MIXED FUNCTION
OXIDASE DEFICIENCY
ADRENAL HYPERPLASIA, CONGENITAL, DUE 202010 CYP11B1 (CYTOCHROME P450, 610613 Whole Gene
TO STEROID 11‐BETA‐HYDROXYLASE SUBFAMILY 11B, POLYPEPTIDE 1,
DEFICIENCY » ADRENAL HYPERPLASIA 4 STEROID 11‐BETA‐HYDROXYLASE,
STEROID 11‐BETA‐HYDROXYLASE DEFICIENCY P450C11)
» 11‐@BETA‐HYDROXYLASE DEFICIENCY »
ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY
ADRENAL HYPERPLASIA, CONGENITAL, DUE 202010 CYP11B1 (CYTOCHROME P450, 610613 CYP11B1/ CYP11B2 fusion
TO STEROID 11‐BETA‐HYDROXYLASE SUBFAMILY 11B, POLYPEPTIDE 1,
DEFICIENCY » ADRENAL HYPERPLASIA 4 STEROID 11‐BETA‐HYDROXYLASE,
STEROID 11‐BETA‐HYDROXYLASE DEFICIENCY P450C11)
» 11‐@BETA‐HYDROXYLASE DEFICIENCY »
ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY
ADRENOLEUKODYSTROPHY, ALD » 300100 ABCD1 300371
ADRENOMYELONEUROPATHY, AMN
ADRENOLEUKODYSTROPHY, AUTOSOMAL 202370 PEX1 (PEROXISOME BIOGENESIS 602136 Exons 13 and 15
NEONATAL FORM, NALD FACTOR 1)
ADRENOLEUKODYSTROPHY, AUTOSOMAL 202370 PEX2, PEX10, PEX12 and PEX26 PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12
NEONATAL FORM, NALD (Exons 2 and 3) and PEX26 (Exons 2 and 3)
ADULT POLYCYSTIC KIDNEYS, PKD, ADPKD » 173900 PKD1 (POLYCYSTIN 1) AND PKD2 601313 2 Genes
POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE (POLYCYSTIN 2) AND
173910
AFIBRINOGENEMIA » DYSFIBRINOGENEMIA 202400 FGA (FIBRINOGEN ALPHA) 134820
AFIBRINOGENEMIA » DYSFIBRINOGENEMIA 202400 FGB (FIBRINOGEN BETA) 134830
AFIBRINOGENEMIA » DYSFIBRINOGENEMIA 202400 FGG (FIBRINOGEN GAMMA) 134850
AGAMMAGLOBULINEMIA (X‐LINKED), XLA » 300300 BTK (BRUTON TYROSINE KINASE, 300300
BRUTON AGAMMAGLOBULINEMIA » ATK, BPK)
HYPOGAMMAGLOBULINEMIA (X‐LINKED)
AGAMMAGLOBULINEMIA, NON‐BRUTON 601495 IGHM (IMMUNOGLOBULIN MU) 147020
TYPE (AUTOSOMAL RECESSIVE)
AICARDI‐GOUTIERES SYNDROME 1 » 225750 TREX1 (3‐PRIME @REPAIR 606605
ENCEPHALOPATHY, FAMILIAL INFANTILE, EXONUCLEASE 1, ATRIP)
WITH INTRACRANIAL CALCIFICATION AND
CHRONIC CEREBROSPINAL FLUID
LYMPHOCYTOSIS » CREE ENCEPHALITIS »
PSEUDO‐TORCH SYNDROME »
PSEUDOTOXOPLASMOSIS SYNDROME
AICARDI‐GOUTIERES SYNDROME 2 610181 RNASEH2B (RIBONUCLEASE H2, 610326
SUBUNIT B)
AICARDI‐GOUTIERES SYNDROME 3 610329 RNASEH2C (RIBONUCLEASE H2, 610330
SUBUNIT C)
AICARDI‐GOUTIERES SYNDROME 4 610333 RNASEH2A (RIBONUCLEASE H2, 606034
LARGE SUBUNIT)
ALAGILLE SYNDROME 118450 JAG1 (JAGGED1) 601920
ALBINISM, OCULAR, TYPE 1, OA1 » 300500 OA1 300500
NETTLESHIP‐FALLS TYPE OCULAR ALBINISM
ALBRIGHT HEREDITARY OSTEODYSTROPHY » 103580 GNAS (GNAS1, ALPHA SUBUNIT OF 139320
PSEUDOHYPOPARATHYROIDISM, TYPE 1A » Gs, ALPHA SUBUNIT OF ADENYLATE
PSEUDOHYPOPARATHYROIDISM, TYPE 1C » CYCLASE STIMULATORY PROTEIN)
PSEUDOPSEUDOHYPOPARATHYROIDISM
ALEXANDER DISEASE 203450 GFAP (GLIAL FIBRILLARY ACIDIC 137780
PROTEIN)
ALPERS DIFFUSE DEGENERATION OF 203700 POLG (POLYMERASE, DNA, GAMMA) 174763
CEREBRAL GRAY MATTER WITH HEPATIC
CIRRHOSIS » ALPERS PROGRESSIVE INFANTILE
POLIODYSTROPHY » ALPERS SYNDROME »
ALPERS‐HUTTENLOCHER SYNDROME »
NEURONAL DEGENERATION OF CHILDHOOD
WITH LIVER DISEASE, PROGRESSIVE
ALPHA HAEMOGLOBINOPATHIA » ALPHA 141800 HBA 1 and HBA 2 (ALPHA GLOBIN) 141800 Whole Gene (both HBA1 and HBA2) or Deletion
THALASSEMIA Analysis (MLPA)
ALPHA‐THALASSEMIA / MENTAL 301040 ATRX (XNP) 300032 Blood in RNA PAX tubes
RETARDATION SYNDROME, ATRX (X‐LINKED) »
ATR‐X SYNDROME » XLMR‐HYPOTONIC FACE
SYNDROME » MENTAL RETARDATION, XLMR‐
HYPOTONIC FACE SYNDROME
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 COL4A3 120070
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 COL4A4 120131
ALPORT SYNDROME (X‐LINKED) » ALPORT 301050 COL4A5 303630
SYNDROME‐LIKE HEREDITARY NEPHRITIS
ALSTROM SYNDROME, ALMS 203800 ALMS1 606844 Exons 10, 16, and part of Exon 8
ALZHEIMER DEMENTIA, EARLY‐ONSET, TYPE 1, 104300 APP 104760 Whole Gene or Exons 16 and 17 harbouring the
AD1 majority of mutations
ALZHEIMER DEMENTIA, EARLY‐ONSET, TYPE 3, 607822 PSEN1 (PRESENILIN 1, PS1) 104311
AD3
ALZHEIMER DEMENTIA, EARLY‐ONSET, TYPE 4, 606889 PSEN2 (PRESENILIN 2, PS2) 600759
AD4
AMEGAKARYOCYTIC THROMBOCYTOPENIA, 604498 MPL (MYELOPROLIFERATIVE 159530
CONGENITAL, CAMT LEUKEMIA VIRUS ONCOGENE, TPOR)
AMYLOID POLYNEUROPATHY » AMYLOIDOSIS 176300 TTR (TRANSTHYRETIN) 176300 Exons 2‐4
1
AMYOTROPHIC LATERAL SCLEROSIS 4, 602433 SETX (SENATAXIN) 608465
JUVENILE, ALS4 » NEURONOPATHY, DISTAL
HEREDITARY MOTOR, WITH PYRAMIDAL
FEATURES
AMYOTROPHIC LATERAL SCLEROSIS, ALS » 105400 SOD1 147450
LOU GEHRIG'S DISEASE
AMYOTROPHIC LATERAL SCLEROSIS, 105400 ANG (ANGIOGENIN, RNASE5) 105850
FAMILIAL, FALS, ALS1
AMYOTROPHIC LATERAL SCLEROSIS, ANGELMAN 105850
FAMILIAL, FALS, ALS1
ANDERSEN CARDIODYSRHYTHMIC PERIODIC 170390 KCNJ2 (POTASSIUM CHANNEL, 600681
PARALYSIS » ANDERSEN SYNDROME LONG QT INWARDLY RECTIFYING, SUBFAMILY
SYNDROME 7, LQT7 » PERIODIC PARALYSIS, J, MEMBER 2, KIR2.1)
POTASSIUM‐SENSITIVE CARDIODYSRHYTHMIC
TYPE » ANDERSEN‐TAWIL SYNDROME
ANDROGEN INSENSITIVITY SYNDROME, AIS 300068 AR (ANDROGEN RECEPTOR) 313700
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, 224120 CDAN1 (CODANIN 1, DISCS LOST, 607465
TYPE 1 » DYSERYTHROPOIETIC ANEMIA, DROSOPHILA, HOMOLOG OF)
CONGENITAL, TYPE 1
ANEMIA, SIDEROBLASTIC, AND 301310 ABCB7 (ATP‐BINDING CASSETTE, 300135
SPINOCEREBELLAR ATAXIA SUBFAMILY B, MEMBER 7, ABC
TRANSPORTER 7)
ANGELMAN SYNDROME, AS 105830 UBE3A 601623 Whole gene
ANGELMAN SYNDROME, AS 105830 UBE3A 601623 IC Deletion
ANGELMAN SYNDROME, AS 105830 UBE3A 601623 Methylation
ANGELMAN SYNDROME, ATYPICAL 105830 CDKL5 (CYCLIN‐DEPENDENT KINASE‐
LIKE 5, STK9)
ANGIOEDEMA » ANGIONEUROTIC EDEMA » 106100 C1NH (C1 ESTERASE INHIBITOR, 606860
QUINCKE EDEMA SERPING 1)
ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3 129490 EDAR (ECTODYSPLASIN 1) 604095
» HYPOHIDROTIC ECTODERMAL DYSPLASIA
(AUTOSOMAL DOMINANT), EDA3 »
ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE
3
ANIRIDIA, TYPE 2, AN2 106210 PAX6 (PAIRED BOX GENE 6) 607108 Whole Gene
ANIRIDIA, TYPE 2, AN2 106210 PAX6 (PAIRED BOX GENE 6) 607108 Deletion analysis (MLPA)
ANKYLOBLEPHARON‐ECTODERMAL DEFECTS 106260 P63 (TP63) 603273 Exons 5‐8, 13 and 14
WITH CLEFT LIP AND PALATE » HAY‐WELLS
SYNDROME
ANOPHTHALMIA, ANOP3 206900 SOX2 (SRY‐BOX 2) 184429
ANTENATAL BARTTER SYNDROME, TYPE 2 » 241200 KCNJ1 (POTASSIUM CHANNEL, 600359
HYPOKALEMIC ALKALOSIS WITH INWARDLY RECTIFYING, SUBFAMILY
HYPERCALCIURIA, ANTENATAL, TYPE 2 » J, MEMBER 1, KIR1.1, ROMK1)
HYPERPROSTAGLANDIN E SYNDROME, TYPE 2
ANTERIOR SEGMENT MESENCHYMAL FOXC1 (FORKHEAD BOX C1, 601090 Whole Gene Sequencing or Deletion‐Duplication
DYSGENESIS FORKHEAD, DROSOPHILA,
HOMOLOG‐LIKE 7, FKHL7
FORKHEAD‐RELATED ACTIVATOR 3,
FREAC3)
ANTITHROMBIN 3 DEFICIENCY » 107300 AT3 (SERPINC1) 107300
THROMBOPHILIA, HEREDITARY, DUE TO
DEFICIENCY OF AT3
ANTITRYPSINE DEFICIENCY, AAT 107400 PI (ANTITRYPSINE, PROTEASE 107400 Alleles M, S and Z
INHIBITOR)
Description:achondrogenesis type 1b 600972 slc26a2 (dtd sulfate transporter, dtdst) 606718 achondrogenesis type 2 200610 col2a1 120140
