Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name CDCA8 gene CDCA8 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital hypothyroidism, MONDO:0018612, CDCA8-related 28025328;29546359 False 3 100;0;0 0.120 True Other ENSG00000134690 ENSG00000134690 HGNC:14629 DNAJC3 gene DNAJC3 Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 34654017;34630333;33486469;32738013;28940199 False 3 100;0;0 0.120 True ENSG00000102580 ENSG00000102580 HGNC:9439 DUOX2 gene DUOX2 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 6, 607200 24423310;16134168;27525530 (Nicholas et al.,2016) identify a monogenic and digenic basis of disease;12110737;27166716 False 3 50;0;50 0.120 True ENSG00000140279 ENSG00000140279 HGNC:13273 DUOXA2 gene DUOXA2 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5, 274900 27349010;21367925;28100324;26758695;18042646 False 3 100;0;0 0.120 True ENSG00000140274 ENSG00000140274 HGNC:32698 FOXE1 gene FOXE1 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bamforth Lazarus syndrome, MIM#241850 (hypothyroidism);Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate, 241850 20484477;9697705;24219130 (gain-of-function mutation);9697704 (mouse model);28928994;28455095;12165566;16882747 False 3 100;0;0 0.120 True Other - please provide details in the comments ENSG00000178919 ENSG00000178919 HGNC:3806 GATA6 gene GATA6 Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pancreatic agenesis and congenital heart defects, OMIM# 600001 PMID: 31271559, 32207556, 23223019 False 3 100;0;0 0.120 True ENSG00000141448 ENSG00000141448 HGNC:4174 GLIS3 gene GLIS3 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM# 610199 26259131;16715098;30555422;28253873 False 3 100;0;0 0.120 True ENSG00000107249 ENSG00000107249 HGNC:28510 GNAS gene GNAS Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism) 27922245;17299070;23412865;27467896 False 3 100;0;0 0.120 True ENSG00000087460 ENSG00000087460 HGNC:4392 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 5, MIM# 182230 9620767;26416826 (2015 review);11136712 False 3 100;0;0 0.120 True ENSG00000163666 ENSG00000163666 HGNC:4877 IGSF1 gene IGSF1 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypothyroidism, central, and testicular enlargement, MIM# 300888 27310681;30086211;24108313 (reports that a subset of female carriers show central hypothyroidism).;26840047;27762734;23143598 False 3 100;0;0 0.120 True ENSG00000147255 ENSG00000147255 HGNC:5948 IRS4 gene IRS4 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 30061370;10644546 False 3 100;0;0 0.120 True ENSG00000133124 ENSG00000133124 HGNC:6128 IYD gene IYD Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4, MIM# 274800 24629858 (Review);18765512;PMID:18434651 (Moreno et al., 2008): 2 missense mutations and a 3bp deletion were identified in 4 patients with hypothryoidism from 3 unrelated families;PMID:22535972 (Burniat et al., 2012) identified a homozygous IYD mutation in a child born to first-cousins. A 4.5-yr-old unaffected sister was found homozygous for the mutation False 3 100;0;0 0.120 True ENSG00000009765 ENSG00000009765 HGNC:21071 JAG1 gene JAG1 Expert Review;Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM#118450 26760175;28653287 False 3 100;0;0 0.120 True ENSG00000101384 ENSG00000101384 HGNC:6188 KCNQ1 gene KCNQ1 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopituitarism, MONDO:0005152 29097701,38987191 False 3 100;0;0 0.120 True ENSG00000053918 ENSG00000053918 HGNC:6294 KMT2D gene KMT2D Expert Review;Expert Review Green Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH), MIM#620186 31949313;32083401 False 3 100;0;0 0.120 True ENSG00000167548 ENSG00000167548 HGNC:7133 LHX3 gene LHX3 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "Pituitary hormone deficiency, combined, 3, 221750;sensorineural deafness;GH, TSH, LH, FSH, PRL deficiency;limited neck rotation;short cervical spine;anterior pituitary may be normal, hypoplastic or enlarged" 18407919;10835633;26416826 (2015 review);21249393 False 3 100;0;0 0.120 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted anterior pituitary hypoplasia;GH, TSH, ACTH, variable gonadotrophin deficiencies;etopic posterior pituitary;Pituitary hormone deficiency, combined, 4, 262700;cerebellar abnormalities 25955177;26416826 (2015 review);11567216 False 3 100;0;0 0.120 False ENSG00000121454 ENSG00000121454 HGNC:21734 NKX2-1 gene NKX2-1 Expert Review Green;Genomics England PanelApp;Royal Melbourne Hospital;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction, 610978 11854319;24714694 False 3 100;0;0 0.120 True ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-5 gene NKX2-5 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital nongoitrous, 5, 225250;thyrioid ectopy, thyroid agenesis, congenital heart disease 16418214 False 3 100;0;0 0.120 True Other - please provide details in the comments ENSG00000183072 ENSG00000183072 HGNC:2488 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 6, MIM# 613986 18628516;26416826;18728160;35320640;33950863 False 3 100;0;0 0.120 True ENSG00000165588 ENSG00000165588 HGNC:8522 PAX8 gene PAX8 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, Congenital, Nongoitrous, 2, 218700;thyroid dysgenesis;Congenital hypothyroidism;thyroid hypoplasia;Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, 218700;eutopic gland-in-situ;urogenital tract malformations PMID:23647375;PMID:9590296 False 3 100;0;0 0.120 False ENSG00000125618 ENSG00000125618 HGNC:8622 POMC gene POMC Expert Review Green;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 33666293;40513101;34177811;29858905 False 3 100;0;0 0.120 True ENSG00000115138 ENSG00000115138 HGNC:9201 POU1F1 gene POU1F1 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism;Pituitary hormone deficiency, combined, 1, 613038 (Hypopthyroidism) 16060904;11297581;26416826 False 3 100;0;0 0.120 False Other - please provide details in the comments ENSG00000064835 ENSG00000064835 HGNC:9210 PRKAR1A gene PRKAR1A Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis, mild hormone resistance (TSH, PTH, GPCR-cAMP signalling hormones;Acrodysostosis 1, with or without hormone resistance, 101800 22464250;21651393 False 3 100;0;0 0.120 False Other - please provide details in the comments ENSG00000108946 ENSG00000108946 HGNC:9388 PROP1 gene PROP1 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time;GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency;Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations;Pituitary hormone deficiency, combined, 2, 262600 15126542;16984240;9768691;15472175;26416826 (2015 review);23652424 False 3 100;0;0 0.120 False ENSG00000175325 ENSG00000175325 HGNC:9455 RNPC3 gene RNPC3 Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency;Intellectual disability 29866761;32462814;33650182;37463572;35792517;34906446 False 3 100;0;0 0.120 True ENSG00000185946 ENSG00000185946 HGNC:18666 SECISBP2 gene SECISBP2 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Thyroid hormone metabolism, abnormal, MIM# 609698 20501692;16228000;22247018;24629861;22986150;19602558;21084748 False 3 100;0;0 0.120 True ENSG00000187742 ENSG00000187742 HGNC:30972 SGPL1 gene SGPL1 Expert Review Green;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) 33074640;35904228;35748945;32322566;28165343;38204317 False 3 100;0;0 0.120 True ENSG00000166224 ENSG00000166224 HGNC:10817 SLC16A2 gene SLC16A2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Allan-Herndon-Dudley syndrome, MIM# 300523" 24847459 False 3 100;0;0 0.120 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC26A4 gene SLC26A4 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal enlarged vestibular aqueduct;Sensorineural deafness;partial iodide organification defect;mild hypothyroidism;Pendred syndrome, 274600 (congenital deafness and thyroid goitre);goitre;Mondini defect 11932316;9398842 False 3 100;0;0 0.120 False ENSG00000091137 ENSG00000091137 HGNC:8818 SLC26A7 gene SLC26A7 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital hypothyroidism, MONDO:0018612, SLC26A7-related 30333321;29546359;34780050;32486989;31372509 False 3 100;0;0 0.120 True ENSG00000147606 ENSG00000147606 HGNC:14467 SLC5A5 gene SLC5A5 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Apparent athyreosis on nuclear medicine scan;childhood onset hypothyroidism;goitre;Thyroid dyshormonogenesis 1, 274400;HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1 9171822;16418213 False 3 100;0;0 0.120 False ENSG00000105641 ENSG00000105641 HGNC:11040 SOX3 gene SOX3 Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked, MONDO:0010712;Panhypopituitarism, X-linked, OMIM:312000;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123 15800844;12428212;26416826 (2015 review) False 3 100;0;0 0.120 False ENSG00000134595 ENSG00000134595 HGNC:11199 TBCE gene TBCE Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal hypoparathyroidism-retardation-dysmorphism syndrome, MONDO:0009426 39086450;33150438;26336027 False 3 100;0;0 0.120 True ENSG00000116957 ENSG00000116957 HGNC:11582 TBL1X gene TBL1X Expert Review Green;Genomics England PanelApp;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) isolated mild-moderate central hypothyroidism;Hypothyroidism, congenital, nongoitrous, 8, 301033 27603907;30591955 False 3 100;0;0 0.120 False ENSG00000101849 ENSG00000101849 HGNC:11585 TG gene TG Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital hypothyroidism;Thyroid dyshormonogenesis 3, 274700;TDH3;low thyroglobulin, goitre 27525530 (Nicholas et al.,2016) identify a monogenic and polygenic basis of disease.;23164529 False 3 100;0;0 0.120 False ENSG00000042832 ENSG00000042832 HGNC:11764 THRA gene THRA Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypothyroidism or thyroid agenesis;delayed dentition;macrocephaly;Hypothyroidism, Congenital, Nongoitrous, 6, 614450;Hypothyroidism, congenital, nongoitrous, 6, 614450;neurodevelopmental delay;Resistance to thyroid hormone;constipation;skeletal dysplasia;growth retardation;macrocytic anaemia 27144938;22168587;27381958;2567082;24847459;23940126;22494134 False 3 100;0;0 0.120 False ENSG00000126351 ENSG00000126351 HGNC:11796 THRB gene THRB Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION;THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE;THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT;Thyroid hormone resistance, autosomal recessive, 274300;Thyroid Hormone Resistance, Selective Pituitary;Resistance to thyroid hormone (RTH);145650;PRTH;REFETOFF SYNDROME;THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY;thyroid hormone unresponsiveness, generalized RTH, RTH beta;Thyroid Hormone Resistance (monoallelic);Thyroid hormone resistance, 188570;Thyroid hormone resistance, selective pituitary, 145650;THYROID HORMONE UNRESPONSIVENESS;THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES;Refetoff syndrome;GRTH 24847459 False 3 50;50;0 0.120 False ENSG00000151090 ENSG00000151090 HGNC:11799 TPO gene TPO Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital hypothyroidism;Iodide organification defect;goitre;TDH2A;Thyroid dyshormonogenesis 2A, 274500 12938097;27166716;8964831;11061528;8027236;27525530 (Nicholas et al.,2016) identify a monogenic basis of disease False 3 100;0;0 0.120 False ENSG00000115705 ENSG00000115705 HGNC:12015 TRHR gene TRHR Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 PMID: 19213692;PMID: 9141550 False 3 100;0;0 0.120 True ENSG00000174417 ENSG00000174417 HGNC:12299 TSHB gene TSHB Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Congenital hypothyroidism;Hypothryoidism, congenital, nongoitrous 4, 275100;severe isolated central hypothyroidism 2792087;27362444 False 3 100;0;0 0.120 False ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR Expert Review Green;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 1 275200;thyroid dysgenesis;Congenital hypothyroidism;thyroid hypoplasia;compensated hypothryoidism;subclinical hypothyroidism;Hypothyroidism, Congenital, Nongoitrous, 1, 275200;eutopic gland-in-situ;TSH resistance 16060907 (Camilot et al., 2005 report subclinical hypothyroid subjects with heterozygous substitutions;22876533;7528344;PMID:17526952 (Kanda et al., 2006) examine Japanese patients homozygous and heterozygous for the R450H mutation in the TSHR gene. Homozygous subjects displayed mild hypothyroidism/ Heterozygous patients also demonstrated hypothyroidism, but less severe than that of homozygous subjects.;27525530 (Nicholas et al.,2016) identify a monogenic basis of disease.;PMID:14725684 (Park et al. 2004) suggest that heterozygosity for an inactivating TSHR mutation may be associated with compensated hypothyroidism and thyroid hypoplasia False 3 100;0;0 0.120 False ENSG00000165409 ENSG00000165409 HGNC:12373 UBR7 gene UBR7 Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Li-Campeau syndrome, MIM# 619189;Intellectual disability;epilepsy;hypothyroidism;congenital anomalies;dysmorphic features 33340455 False 3 100;0;0 0.120 True ENSG00000012963 ENSG00000012963 HGNC:20344 ZBTB26 gene ZBTB26 Expert Review Green;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hypothyroidism MONDO:0018612 34946811 False 3 100;0;0 0.120 True ENSG00000171448 ENSG00000171448 HGNC:23383 CDC42 gene CDC42 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypothyroidism, MONDO:0018612 30872706;29335451;30872706;29335451 False 2 0;100;0 0.120 True ENSG00000070831 ENSG00000070831 HGNC:1736 CNTN6 gene CNTN6 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal congenital hypothyroidism MONDO:0018612 38183624 False 2 0;100;0 0.120 True ENSG00000134115 ENSG00000134115 HGNC:2176 DUOXA1 gene DUOXA1 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism, No OMIM # PMID: 29650690 False 2 0;100;0 0.120 True ENSG00000140254 ENSG00000140254 HGNC:26507 FOXP3 gene FOXP3 Expert Review Amber;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 11295725;11137993;33668198;33614561;33330291;32234571 False 2 50;50;0 0.120 True ENSG00000049768 ENSG00000049768 HGNC:6106 GBP1 gene GBP1 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders Unknown Congenital hypothyroidism, MONDO:0018612 34194003 False 2 0;100;0 0.120 True ENSG00000117228 ENSG00000117228 HGNC:4182 NSD1 gene NSD1 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sotos syndrome, MONDO:0019349 41024235;34350334;15942875 False 2 0;100;0 0.120 True ENSG00000165671 ENSG00000165671 HGNC:14234 NTN1 gene NTN1 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thyroid ectopia with hypothyroidism 35774517;25353184 False 2 0;100;0 0.120 False ENSG00000065320 ENSG00000065320 HGNC:8029 NUDCD2 gene NUDCD2 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies (MONDO:0019042), NUDCD2-related 37272762 False 2 0;100;0 0.120 True ENSG00000170584 ENSG00000170584 HGNC:30535 TANGO2 gene TANGO2 Expert Review Amber;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 26805782;30245509;36473599 32929747 False 2 50;50;0 0.120 True ENSG00000183597 ENSG00000183597 HGNC:25439 TRPC4AP gene TRPC4AP Expert Review;Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thyroid hypoplasia, MONDO:0019861, TRPC4AP-related 32428920;26786105 False 2 0;100;0 0.120 True ENSG00000100991 ENSG00000100991 HGNC:16181 TTF1 gene TTF1 Expert Review Amber;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital hypothyroidism, thyroid dysgenesis, No OMIM # PMID: 30022773 False 2 0;100;0 0.120 True ENSG00000125482 ENSG00000125482 HGNC:12397 TUBB1 gene TUBB1 Expert Review Amber;Genomics England PanelApp Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112;Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets 30446499;31642429;40071799 False 2 50;50;0 0.120 True ENSG00000101162 ENSG00000101162 HGNC:16257 AKT3 gene AKT3 Expert Review Red;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283 38459620;35665751 False 1 0;0;100 0.120 True ENSG00000117020 ENSG00000117020 HGNC:393 DUOX1 gene DUOX1 Expert Review Red;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal congenital hypothyroidism, No OMIM # 29650690;28633507 False 1 0;0;100 0.120 True ENSG00000137857 ENSG00000137857 HGNC:3062 HIST1H1E gene HIST1H1E Expert Review Red;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rahman syndrome, MIM# 617537 40444808;34290007 False 1 0;0;100 0.120 True ENSG00000168298 ENSG00000168298 HGNC:4718 MAMLD1 gene MAMLD1 Expert Review Red;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital hypothyroidism MONDO:0018612 36898841 False 1 0;0;100 0.120 True ENSG00000013619 ENSG00000013619 HGNC:2568 NNT gene NNT Expert Review Red;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypothyroidism, MONDO:0018612 34545694 False 1 0;0;100 0.120 True ENSG00000112992 ENSG00000112992 HGNC:7863 OTUD6B gene OTUD6B Expert Review Red;Victorian Clinical Genetics Services Congenital hypothyroidism Thyroid disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452 28343629;32924626;31147255 False 1 50;0;50 0.120 True ENSG00000155100 ENSG00000155100 HGNC:24281 TTF2 gene TTF2 Expert Review Red;Literature Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital hypothyroidism, thyroid dysgenesis, No OMIM # PMID: 30022773 False 1 0;0;100 0.120 True ENSG00000116830 ENSG00000116830 HGNC:12398 SOX3_PHPX_GCN str SOX3 Expert list;Expert Review Green;Expert Review Green;Expert list Congenital hypothyroidism Thyroid disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123;Panhypopituitarism, X-linked MIM#312000 12428212;15800844;33811808;23505376;19654509 False 3 100;0;0 0.120 False ENSG00000134595 ENSG00000134595 HGNC:11199 X 139586482 139586526 140504317 140504361 GCN 15 22 ISCA-37478-Loss region Expert list;Expert Review Green;Expert Review Green;Expert list Congenital hypothyroidism Thyroid disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Angelman syndrome, MIM# 105830;Prader-Willi syndrome, MIM# 176270 22045295 False 3 100;0;0 0.120 False 15 23513243 28312040 3 80 cnv_loss Angelman and Prader-Willi syndromes, Class 2 BP2-BP3 deletions