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2/18/2021 Medfødt hypotyreose v01 Avdeling for medisinsk genetikk Medfødt hypotyreose Genpanel, versjon v01 * Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesifikk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identifisert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes (https://genome.ucsc.edu). Vi gjør oppmerksom på at ved identifiseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres. Avdelingens websider har en full oversikt over områder som er affisert av segmentale duplikasjoner. ** Transkriptets kodende ekson. Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* CDCA8 14629 NM_001256875.2 1-10 DUOX2 13273 NM_014080.4 5-8 2-34 Thyroid dyshormonogenesis 6 OMIM DUOXA2 32698 NM_207581.4 1-6 Thyroid dyshormonogenesis 5 OMIM FOXE1 3806 NM_004473.4 1 Bamforth-Lazarus syndrome OMIM GLIS3 28510 NM_152629.3 2-10 Diabetes mellitus, neonatal, with congenital hypothyroidism OMIM file:///data/Hypotyreose_v01-web.html 1/4 2/18/2021 Medfødt hypotyreose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* GNAS 4392 NM_000516.6 1-13 ACTH-independent macronodular adrenal hyperplasia OMIM McCune-Albright syndrome, somatic, mosaic OMIM Osseous heteroplasia, progressive OMIM Pseudohypoparathyroidism Ia OMIM Pseudohypoparathyroidism Ib OMIM Pseudohypoparathyroidism Ic OMIM Pseudopseudohypoparathyroidism OMIM HESX1 4877 NM_003865.3 1-4 Growth hormone deficiency with pituitary anomalies OMIM Pituitary hormone deficiency, combined, 5 OMIM Septooptic dysplasia OMIM IGSF1 5948 NM_001170961.1 2-20 Hypothyroidism, central, and testicular enlargement OMIM IRS4 6128 NM_003604.2 1 Hypothyroidism, congenital, nongoitrous, 9 OMIM IYD 21071 NM_203395.3 1-5 Thyroid dyshormonogenesis 4 OMIM LHX3 6595 NM_014564.5 1-6 Pituitary hormone deficiency, combined, 3 OMIM LHX4 21734 NM_033343.4 1-6 Pituitary hormone deficiency, combined, 4 OMIM NKX2-1 11825 NM_001079668.3 1-3 Hypothyreoidisme NKX2-5 2488 NM_004387.4 1-2 Hypothyreoidisme file:///data/Hypotyreose_v01-web.html 2/4 2/18/2021 Medfødt hypotyreose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* OTX2 8522 NM_001270524.2 2-4 Microphthalmia, syndromic 5 OMIM Pituitary hormone deficiency, combined, 6 OMIM Retinal dystrophy, early-onset, with or without pituitary dysfunction OMIM PAX8 8622 NM_003466.4 2-12 Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia OMIM POU1F1 9210 NM_000306.4 1-6 Pituitary hormone deficiency, combined, 1 OMIM PRKAR1A 9388 NM_002734.4 2-11 Acrodysostosis 1, with or without hormone resistance OMIM Carney complex, type 1 OMIM Myxoma, intracardiac OMIM Pigmented nodular adrenocortical disease, primary, 1 OMIM PROP1 9455 NM_006261.4 1-3 Pituitary hormone deficiency, combined, 2 OMIM SECISBP2 30972 NM_024077.5 1-17 Thyroid hormone metabolism, abnormal OMIM SLC16A2 10923 NM_006517.5 1-6 Allan-Herndon-Dudley syndrome OMIM SLC26A4 8818 NM_000441.2 2-21 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct OMIM Pendred syndrome OMIM SLC26A7 14467 NM_001282356.2 3-20 Hypothyreoidisme SLC5A5 11040 NM_000453.3 1-15 Thyroid dyshormonogenesis 1 OMIM TBL1X 11585 NM_005647.4 4-18 Hypothyroidism, congenital, nongoitrous, 8 OMIM TG 11764 NM_003235.5 1-48 Thyroid dyshormonogenesis 3 OMIM file:///data/Hypotyreose_v01-web.html 3/4 2/18/2021 Medfødt hypotyreose v01 Gen Gen Ekson (HGNC (HGNC Transkript affisert av Ekson** Fenotype symbol) ID) segdup* THRA 11796 NM_199334.4 2-9 Hypothyroidism, congenital, nongoitrous, 6 OMIM THRB 11799 NM_000461.5 3-10 Thyroid hormone resistance OMIM Thyroid hormone resistance, autosomal recessive OMIM Thyroid hormone resistance, selective pituitary OMIM TPO 12015 NM_000547.5 2-17 Thyroid dyshormonogenesis 2A OMIM TRHR 12299 NM_003301.6 2-3 Hypothyroidism, congenital, nongoitrous, 7 OMIM TSHB 12372 NM_000549.5 2-3 Hypothyroidism, congenital, nongoitrous 4 OMIM TSHR 12373 NM_000369.3 1-10 Hyperthyroidism, nonautoimmune OMIM Hypothyroidism, congenital, nongoitrous, 1 OMIM Thyroid carcinoma with thyrotoxicosis TUBB1 16257 NM_030773.4 1-4 OMIM file:///data/Hypotyreose_v01-web.html 4/4.
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