Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx THi analiza 46 genes asociados a trastornos del hierro usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
ABCB10 | 70.3 | 0.78 | 0.7 | No OMIM phenotype | 614858 |
ABCB10 | 70.3 | 0.78 | 0.7 | ?anemia with protoporphyrin IX (PPIX) accumulation (Chen et al, (2009), Yamamoto et al, (2014)), | 614858 |
ABCB7 | 156 | 0.99 | 0.97 | Anemia, sideroblastic, with ataxia, | 301310 |
ALAS2 | 107.4 | 0.99 | 0.96 | Anemia, sideroblastic, 1 | 300751 |
ALAS2 | 107.4 | 0.99 | 0.96 | Protoporphyria, erythropoietic, X-linked, | 300752 |
ATP4A | 172.8 | 0.99 | 0.98 | No OMIM-phenotype | 300752 |
ATP4A | 172.8 | 0.99 | 0.98 | Gastric neuroendocrine tumor, type 1 (Calvete -2015 Hum Mol Genet 24,2914) | 300752 |
BMP6 | 111.4 | 0.92 | 0.89 | No OMIM phenotype | 300752 |
BMP6 | 111.4 | 0.92 | 0.89 | ?hemochromatosis (Babitt et al, (2007), Kautz et al, (2008)), | 300752 |
C15orf41 | 144.5 | 1 | 0.99 | Dyserythropoietic anemia, congenital, type Ib, | 615631 |
CCL2 | 151.5 | 1 | 1 | {Coronary artery disease, modifier of} | 615631 |
CCL2 | 151.5 | 1 | 1 | {HIV-1, resistance to}, | 609423 |
CCL2 | 151.5 | 1 | 1 | {Mycobacterium tuberculosis, susceptibility to}, | 607948 |
CCL2 | 151.5 | 1 | 1 | {Spina bifida, susceptibility to}, | 182940 |
CDAN1 | 113.1 | 0.98 | 0.96 | Dyserythropoietic anemia, congenital, type Ia, | 224120 |
CP | 141 | 0.94 | 0.9 | Cerebellar ataxia, | 604290 |
CP | 141 | 0.94 | 0.9 | Hemosiderosis, systemic, due to aceruloplasminemia, | 604290 |
CP | 141 | 0.94 | 0.9 | [Hypoceruloplasminemia, hereditary], | 604290 |
CYBRD1 | 149 | 1 | 0.99 | No OMIM phenotype | 604290 |
CYBRD1 | 149 | 1 | 0.99 | Iron overload (Zaahl -2004 Hum Genet 115,409 | 604290 |
CYBRD1 | 149 | 1 | 0.99 | {Haemochromatosis,phenotype modifier,association with} (Constantine -2009 Br J Haematol 147,140) | 604290 |
EXOC6 | 101 | 0.96 | 0.9 | No OMIM phenotype | 604290 |
EXOC6 | 101 | 0.96 | 0.9 | ?Hemoglobin deficit (hypochromic anemia) (Lim et al, (2005), Fleming et al, (2005)) | 604290 |
FECH | 142.4 | 0.99 | 0.99 | Protoporphyria, erythropoietic, autosomal recessive, | 177000 |
FTH1 | 99.1 | 0.98 | 0.88 | ?Hemochromatosis, type 5 | 615517 |
FTL | 131.3 | 0.99 | 0.92 | Hyperferritinemia-cataract syndrome, | 600886 |
FTL | 131.3 | 0.99 | 0.92 | L-ferritin deficiency, dominant and recessive, | 615604 |
FTL | 131.3 | 0.99 | 0.92 | Neurodegeneration with brain iron accumulation 3 | 606159 |
FXN | 86.1 | 0.86 | 0.76 | Friedreich ataxia with retained reflexes, | 229300 |
FXN | 86.1 | 0.86 | 0.76 | Friedreich ataxia, | 229300 |
GATA1 | 95 | 0.99 | 0.97 | Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, | 300835 |
GATA1 | 95 | 0.99 | 0.97 | Leukemia, megakaryoblastic, with or without Down syndrome, somatic, | 190685 |
GATA1 | 95 | 0.99 | 0.97 | Thrombocytopenia with beta-thalassemia, X-linked, | 314050 |
GATA1 | 95 | 0.99 | 0.97 | Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, | 300367 |
GLRX5 | 102.2 | 0.93 | 0.86 | Anemia, sideroblastic, 3 pyridoxine-refractory, | 616860 |
GLRX5 | 102.2 | 0.93 | 0.86 | Spasticity, childhood-onset, with hyperglycinemia, | 616859 |
HAMP | 192.7 | 1 | 1 | Hemochromatosis, type 2B, | 613313 |
HEPH | 100.9 | 0.99 | 0.95 | No OMIM phenotype | 613313 |
HEPH | 100.9 | 0.99 | 0.95 | ?anemia (Vulpe et al, (1999), Anderson et al, (2002), Chen et al, (2004)), | 613313 |
HFE | 155 | 0.99 | 0.99 | Hemochromatosis, | 235200 |
HFE | 155 | 0.99 | 0.99 | [Transferrin serum level QTL2], | 614193 |
HFE | 155 | 0.99 | 0.99 | {Alzheimer disease, susceptibility to}, | 104300 |
HFE | 155 | 0.99 | 0.99 | {Microvascular complications of diabetes 7}, | 612635 |
HFE | 155 | 0.99 | 0.99 | {Porphyria cutanea tarda, susceptibility to}, | 176100 |
HFE | 155 | 0.99 | 0.99 | {Porphyria variegata, susceptibility to}, | 176200 |
HFE2 | 133.3 | 0.99 | 0.99 | Hemochromatosis type 2A, | 602390 |
HMOX1 | 142.1 | 0.97 | 0.9 | Heme oxygenase-1 deficiency, | 614034 |
HMOX1 | 142.1 | 0.97 | 0.9 | {Pulmonary disease, chronic obstructive, susceptibility to}, | 606963 |
HSCB | 96.6 | 0.98 | 0.94 | No OMIM phenotype | 606963 |
HSCB | 96.6 | 0.98 | 0.94 | ?non-syndromic CSA (M,D, Fleming (manuscript in preparation)), | 606963 |
HSPA9 | 97.5 | 0.89 | 0.85 | Anemia, sideroblastic, 4 | 182170 |
HSPA9 | 97.5 | 0.89 | 0.85 | Even-plus syndrome, | 616854 |
KIF23 | 187.3 | 0.95 | 0.93 | No OMIM phenotype | 616854 |
KIF23 | 187.3 | 0.95 | 0.93 | ?Congenital dyserythropoietic anemia type III (CDAIII, Liljeholm et al, (2013)), | 616854 |
KLF1 | 60.9 | 0.92 | 0.85 | Blood group--Lutheran inhibitor, | 111150 |
KLF1 | 60.9 | 0.92 | 0.85 | Dyserythropoietic anemia, congenital, type IV, | 613673 |
KLF1 | 60.9 | 0.92 | 0.85 | [Hereditary persistence of fetal hemoglobin], | 613566 |
NCOA4 | 118.3 | 0.94 | 0.9 | ?Thyroid cancer,nonmedullary,1}, | 188550 |
NDUFB11 | 101.4 | 0.94 | 0.84 | Linear skin defects with multiple congenital anomalies 3 | 300952 |
PANK2 | 177.5 | 0.99 | 0.96 | HARP syndrome, | 607236 |
PANK2 | 177.5 | 0.99 | 0.96 | Neurodegeneration with brain iron accumulation 1 | 234200 |
PUS1 | 150.8 | 0.99 | 0.96 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 |
SEC23B | 185.2 | 0.97 | 0.96 | Cowden syndrome 7 | 616858 |
SEC23B | 185.2 | 0.97 | 0.96 | Dyserythropoietic anemia, congenital, type II, | 224100 |
SFXN4 | 155.3 | 0.99 | 0.98 | Combined oxidative phosphorylation deficiency 18 | 615578 |
SLC11A2 | 146.5 | 1 | 0.99 | Anemia, hypochromic microcytic, with iron overload 1 | 206100 |
SLC19A2 | 128.5 | 0.99 | 0.98 | Thiamine-responsive megaloblastic anemia syndrome, | 249270 |
SLC25A37 | 191.5 | 1 | 1 | No OMIM phenotype | 249270 |
SLC25A37 | 191.5 | 1 | 1 | ?anemia and disruptions in ISC biogenesis, inhibition protoporphyrin biosynthesis (Shaw et al, -2006 | 249270 |
SLC25A37 | 191.5 | 1 | 1 | erythropoietic protophyria (Wang et al, (2011)) | 249270 |
SLC25A38 | 117.7 | 0.99 | 0.96 | Anemia, sideroblastic, 2 pyridoxine-refractory, | 205950 |
SLC40A1 | 164 | 0.99 | 0.99 | Hemochromatosis, type 4 | 606069 |
SLC46A1 | 105.4 | 0.98 | 0.94 | Folate malabsorption, hereditary, | 229050 |
STEAP3 | 186.7 | 1 | 0.99 | ?Anemia, hypochromic microcytic, with iron overload 2 | 615234 |
TF | 143.2 | 1 | 1 | Atransferrinemia, | 209300 |
TFR2 | 105.9 | 0.99 | 0.95 | Hemochromatosis, type 3 | 604250 |
TFRC | 177.7 | 0.99 | 0.99 | Immunodeficiency 46 | 616740 |
TMEM14C | 140 | 1 | 0.99 | No OMIM phenotype | 616740 |
TMEM14C | 140 | 1 | 0.99 | ?combined porphyria and anemia, severe pathogenic effects are lethal but mild defects might modulate | 616740 |
TMEM14C | 140 | 1 | 0.99 | existing anemia and porphyria (Paw et al, (2013), Yien et al, (2014)), | 616740 |
TMPRSS6 | 115.4 | 0.99 | 0.99 | Iron-refractory iron deficiency anemia, | 206200 |
UROS | 119.9 | 1 | 1 | Porphyria, congenital erythropoietic, | 263700 |
YARS2 | 186.8 | 0.99 | 0.98 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 |