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 BRAF gene BRAF Expert review;Expert Review Green;NHS GMS Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiofaciocutaneous syndrome, OMIM:115150;cardiofaciocutaneous syndrome, MONDO:0015280 33795686 False 3 100;0;0 4.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 BTK gene BTK Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated growth hormone deficiency, type III, with agammaglobulinemia, OMIM:307200 8013627;7849697;9554752 False 3 0;0;100 4.4 False ENSG00000010671 ENSG00000010671 HGNC:1133 CHD7 gene CHD7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome (214800);Hypogonadotropic hypogonadism 5 with or without anosmia (612370) False 3 0;0;0 4.4 False ENSG00000171316 ENSG00000171316 HGNC:20626 FGF8 gene FGF8 Expert Review Green;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 6 with or without anosmia (612702) 22319038;21832120;20463092 False 3 0;0;0 4.4 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950;Hartsfield syndrome, OMIM:615465;Pfeiffer syndrome, OMIM:101600;Jackson-Weiss syndrome, OMIM:123150 22319038;25759380 False 3 0;0;0 4.4 False ENSG00000077782 ENSG00000077782 HGNC:3688 FOXA2 gene FOXA2 Expert Review Green;Literature Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM number;Congenital hypopituitarism;Congenital hyperinsulinism 28973288;30414530;29329447 False 3 0;0;0 4.4 False ENSG00000125798 ENSG00000125798 HGNC:5022 GH1 gene GH1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IA, OMIM:262400;Growth hormone deficiency, isolated, type IB, OMIM:612781;Growth hormone deficiency, isolated, type II, OMIM:173100 False 3 0;0;0 4.4 False ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Laron dwarfism, OMIM:262500;Growth hormone insensitivity, partial, OMIM:604271;Increased responsiveness to growth hormone, OMIM:604271 False 3 0;0;0 4.4 False ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IV (618157) False 3 0;0;0 4.4 False ENSG00000106128 ENSG00000106128 HGNC:4266 GHSR gene GHSR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated partial (615925) 25557026;19789204 False 3 0;0;0 4.4 False ENSG00000121853 ENSG00000121853 HGNC:4267 GLI2 gene GLI2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center;UKGTN Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Culler-Jones syndrome (615849);Holoprosencephaly 9 (610829) 14581620;25878059 False 3 0;0;0 4.4 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 24736735;15739154 False 3 0;0;0 4.4 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNRHR gene GNRHR Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 7 without anosmia (146110) False 3 0;0;0 4.4 False ENSG00000109163 ENSG00000109163 HGNC:4421 HESX1 gene HESX1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency with pituitary anomalies, OMIM:182230;Pituitary hormone deficiency, combined, 5, OMIM:182230;Septooptic dysplasia, OMIM:182230 14561704;16940453;11136712;26781211 False 3 0;0;0 4.4 False ENSG00000163666 ENSG00000163666 HGNC:4877 HID1 gene HID1 Expert Review Green;Literature;NHS GMS Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Syndromic infantile encephalopathy;Hypopituitarism;Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983 33999436 False 3 100;0;0 4.4 False ENSG00000167861 ENSG00000167861 HGNC:15736 IGSF1 gene IGSF1 Expert Review Green;NHS GMS;Radboud University Medical Center Pituitary hormone deficiency Endocrinology 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, OMIM:300888 23966245;23143598;26302767 False 3 0;0;0 4.4 False ENSG00000147255 ENSG00000147255 HGNC:5948 KCNQ1 gene KCNQ1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;NHS GMS;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 1 (192500);Pituitary hormone deficiency 29097701;36077086 False 3 100;0;0 4.4 False ENSG00000053918 ENSG00000053918 HGNC:6294 LHX3 gene LHX3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 (221750) False 3 0;0;0 4.4 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 (262700) 18073311;11567216;18445675 False 3 0;0;0 4.4 False ENSG00000121454 ENSG00000121454 HGNC:21734 OTX2 gene OTX2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 6 (613986);Microphthalmia, syndromic 5 (610125) 18728160;18628516;22715480;19965921 False 3 0;0;0 4.4 False ENSG00000165588 ENSG00000165588 HGNC:8522 PITX2 gene PITX2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Axenfeld-Rieger syndrome, type 1 (180500);Anterior segment dysgenesis 4 (137600) False 3 0;0;0 4.4 False ENSG00000164093 ENSG00000164093 HGNC:9005 PNPLA6 gene PNPLA6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Boucher-Neuhauser syndrome (215470);Oliver-McFarlane syndrome (275400);Spastic paraplegia 39, autosomal recessive (612020) 25033069 False 3 0;0;0 4.4 False ENSG00000032444 ENSG00000032444 HGNC:16268 POU1F1 gene POU1F1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038 False 3 0;0;0 4.4 False ENSG00000064835 ENSG00000064835 HGNC:9210 PROKR2 gene PROKR2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 3 with or without anosmia (244200) 25759380;22319038;25678757 False 3 0;0;0 4.4 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 (262600) False 3 0;0;0 4.4 False ENSG00000175325 ENSG00000175325 HGNC:9455 RNPC3 gene RNPC3 Expert Review;Expert Review Green;Literature;NHS GMS Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated 7, OMIM:618160;isolated growth hormone deficiency, type 5, MONDO:0032569 24480542;29866761;32462814;33650182;34906446 False 3 50;50;0 4.4 False ENSG00000185946 ENSG00000185946 HGNC:18666 SOX2 gene SOX2 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 3, OMIM:206900;anophthalmia/microphthalmia-esophageal atresia syndrome, MONDO:0008799 16932809;30450772;29371155 False 3 0;0;0 4.4 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center Pituitary hormone deficiency Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712 21289259;24737742;24346842;15800844 False 3 0;0;0 4.4 False ENSG00000134595 ENSG00000134595 HGNC:11199 TBC1D32 gene TBC1D32 Expert review;Expert Review Green;NHS GMS Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Syndromic Hypopituitarism 24285566;32060556;35875813 False 3 100;0;0 4.4 False ENSG00000146350 ENSG00000146350 HGNC:21485 TBX19 gene TBX19 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency (201400) 11290323;15476446;22170728 False 3 0;0;0 4.4 False ENSG00000143178 ENSG00000143178 HGNC:11596 BMP4 gene BMP4 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia, syndromic 6, OMIM:607932 24289245;31120642;18252212;35633847 False 2 0;0;100 4.4 False ENSG00000125378 ENSG00000125378 HGNC:1071 CDON gene CDON Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 11 (614226) 26529631;21802063 False 2 0;0;0 4.4 False ENSG00000064309 ENSG00000064309 HGNC:17104 DCHS2 gene DCHS2 Expert review;Expert Review Amber Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown pituitary stalk interruption syndrome, MONDO:0019828 33108146 False 2 0;100;0 4.4 False ENSG00000197410 ENSG00000197410 HGNC:23111 EIF2S3 gene EIF2S3 Expert review;Expert Review Amber Pituitary hormone deficiency Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females hypopituitarism, MONDO:0005152;glucose intolerance, MONDO:0001076;MEHMO syndrome, OMIM:300148;MEHMO syndrome, MONDO:0010258 30878599;23063529;27333055;28055140 False 2 0;0;0 4.4 False ENSG00000130741 ENSG00000130741 HGNC:3267 FAT2 gene FAT2 Expert review;Expert Review Amber Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 45, OMIM:617769;spinocerebellar ataxia 45, MONDO:0033480 29053796;33108146 False 2 0;100;0 4.4 False ENSG00000086570 ENSG00000086570 HGNC:3596 PCSK1 gene PCSK1 Expert review;Expert Review Amber;NHS GMS Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Obesity with impaired prohormone processing, OMIM:600955;obesity due to prohormone convertase I deficiency, MONDO:0010961;{Obesity, susceptibility to, BMIQ12},OMIM:612362 30383237 False 2 100;0;0 4.4 False ENSG00000175426 ENSG00000175426 HGNC:8743 RAX gene RAX Expert review;Expert Review Amber Pituitary hormone deficiency Endocrinology BIALLELIC, autosomal or pseudoautosomal Microphthalmia, isolated 3, OMIM:611038;isolated microphthalmia 3, MONDO:0012604 30811539;18783408;14662654 False 2 0;100;0 4.4 False ENSG00000134438 ENSG00000134438 HGNC:18662 ROBO1 gene ROBO1 Expert review;Expert Review Amber;NHS GMS Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303 28402530;31448886;33270637 False 2 100;0;0 4.4 False ENSG00000169855 ENSG00000169855 HGNC:10249 SHH gene SHH Expert Review Amber;Radboud University Medical Center;UKGTN Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia with coloboma 5 (611638);Holoprosencephaly 3 (142945) 22897141 False 2 0;0;0 4.4 False ENSG00000164690 ENSG00000164690 HGNC:10848 TCF7L1 gene TCF7L1 Expert Review Amber;Literature Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM number;pituitary hormone deficiency 26764381 False 2 100;0;0 4.4 False ENSG00000152284 ENSG00000152284 HGNC:11640 TGIF1 gene TGIF1 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center;UKGTN Pituitary hormone deficiency Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Holoprosencephaly 4,OMIM:142946;holoprosencephaly 4, MONDO:0007734 23476075;34440302 False 2 100;0;0 4.4 False ENSG00000177426 ENSG00000177426 HGNC:11776