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 AMMECR1 gene AMMECR1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Short stature;Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 29193635;28089922;27811305 False 3 100;0;0 1.70 False ENSG00000101935 ENSG00000101935 HGNC:467 ANKRD11 gene ANKRD11 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome;148050 21782149 False 3 100;0;0 1.70 True ENSG00000167522 ENSG00000167522 HGNC:21316 BLM gene BLM Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 False 3 100;0;0 1.70 True ENSG00000197299 ENSG00000197299 HGNC:1058 BRAF gene BRAF Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 16825433, 16474404 False 3 100;0;0 1.70 True ENSG00000157764 ENSG00000157764 HGNC:1097 CBL gene CBL Expert Review Green;Other IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA False 3 0;0;0 1.70 True Other - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC8 gene CCDC8 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, 614205 21737058 False 3 100;0;0 1.70 True ENSG00000169515 ENSG00000169515 HGNC:25367 CDC6 gene CDC6 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5, OMIM:613805;patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia 21358632 False 3 100;0;0 1.70 True ENSG00000094804 ENSG00000094804 HGNC:1744 CDKN1C gene CDKN1C Expert Review Green;UKGTN IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies False 3 100;0;0 1.70 True ENSG00000129757 ENSG00000129757 HGNC:1786 CDT1 gene CDT1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, OMIM:613804;micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia 21358632 False 3 100;0;0 1.70 True ENSG00000167513 ENSG00000167513 HGNC:24576 CENPJ gene CENPJ Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal seckel syndrome 20522431 False 3 100;0;0 1.70 True ENSG00000151849 ENSG00000151849 HGNC:17272 CHD7 gene CHD7 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation;CHARGE syndrome, 214800 16400610 False 3 100;0;0 1.70 True ENSG00000171316 ENSG00000171316 HGNC:20626 CREBBP gene CREBBP Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubenstein Taybi False 3 100;0;0 1.70 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly PMC3912419 False 3 100;0;0 1.70 True ENSG00000119878 ENSG00000119878 HGNC:14312 CUL7 gene CUL7 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, 273750 False 3 100;0;0 1.70 True ENSG00000044090 ENSG00000044090 HGNC:21024 DHCR7 gene DHCR7 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Smith Lemli Opitz False 3 0;67;33 1.70 True ENSG00000172893 ENSG00000172893 HGNC:2860 EP300 gene EP300 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubenstein Taybi False 3 100;0;0 1.70 True ENSG00000100393 ENSG00000100393 HGNC:3373 ERCC6 gene ERCC6 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, 133540 False 3 100;0;0 1.70 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal cockayne False 3 100;0;0 1.70 True ENSG00000049167 ENSG00000049167 HGNC:3439 FANCA gene FANCA Expert review;Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal pre- and postnatal growth retardation; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); a typical facial appearance with small head, eyes, and mouth; hearing loss; hypogonadism and reduced fertility; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); bone marrow failure; and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;Fanconi anemia, complementation group A, 227650;Fanconi anemia 16493006 False 3 100;0;0 1.70 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fanconi anemia;Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;VACTERL Association with Hydrocephalus False 3 0;0;0 1.70 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert review;Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal pre- and postnatal growth retardation; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); a typical facial appearance with small head, eyes, and mouth; hearing loss; hypogonadism and reduced fertility; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); bone marrow failure; and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;Fanconi anemia, complementation group C, 227645;Fanconi anemia 16493006 False 3 100;0;0 1.70 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group D2, 227646;Fanconi anemia False 3 0;0;0 1.70 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group E, 600901;Fanconi anemia False 3 0;0;0 1.70 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group F, 603467;Fanconi anemia False 3 0;0;0 1.70 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert review;Expert Review;Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal pre- and postnatal growth retardation; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); a typical facial appearance with small head, eyes, and mouth; hearing loss; hypogonadism and reduced fertility; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); bone marrow failure; and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;Fanconi anemia, complementation group G, 614082;Fanconi anemia;Fanconi anemia complementation group G 16493006 False 3 100;0;0 1.70 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group I, 609053;Fanconi anemia False 3 0;0;0 1.70 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group L, 614083;Fanconi anemia False 3 0;0;0 1.70 False ENSG00000115392 ENSG00000115392 HGNC:20748 FGD1 gene FGD1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog False 3 100;0;0 1.70 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGF8 gene FGF8 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia 22319038 False 3 100;0;0 1.70 True ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 22319038 False 3 100;0;0 1.70 True ENSG00000077782 ENSG00000077782 HGNC:3688 GH1 gene GH1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency False 3 100;0;0 1.70 True ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Laron syndrome False 3 100;0;0 1.70 True ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency False 3 100;0;0 1.70 True ENSG00000106128 ENSG00000106128 HGNC:4266 GLI2 gene GLI2 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly, hypopituitarism False 3 100;0;0 1.70 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome 9054938 False 3 100;0;0 1.70 True ENSG00000106571 ENSG00000106571 HGNC:4319 HDAC8 gene HDAC8 Expert Review Green;Other IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia De Lange False 3 100;0;0 1.70 True ENSG00000147099 ENSG00000147099 HGNC:13315 HESX1 gene HESX1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders 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 False 3 100;0;0 1.70 True ENSG00000163666 ENSG00000163666 HGNC:4877 HRAS gene HRAS Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome 16170316 False 3 100;0;0 1.70 True ENSG00000174775 ENSG00000174775 HGNC:5173 IGF1 gene IGF1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I deficiency, OMIM:608747 False 3 100;0;0 1.70 True ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, OMIM:270450 False 3 100;0;0 1.70 True ENSG00000140443 ENSG00000140443 HGNC:5465 IGFALS gene IGFALS Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Acid-labile subunit, deficiency of, OMIM:615961;Short stature;Delayed puberty;Very low IGF-I levels 14762184 False 3 100;0;0 1.70 True ENSG00000099769 ENSG00000099769 HGNC:5468 INSR gene INSR Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Leprechaunism False 3 100;0;0 1.70 True ENSG00000171105 ENSG00000171105 HGNC:6091 KANSL1 gene KANSL1 Expert list;Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, OMIM:610443;Facial features;Delayed psychomotor development;Intellectual disability 22544363;26306646 False 3 100;0;0 1.70 False ENSG00000120071 ENSG00000120071 HGNC:24565 KDM6A gene KDM6A Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki False 3 100;0;0 1.70 True ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, OMIM:147920 False 3 100;0;0 1.70 True ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy False 3 100;0;0 1.70 True ENSG00000133703 ENSG00000133703 HGNC:6407 LHX3 gene LHX3 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal GH, TSH, LH, FSH, PRL deficiencies False 3 100;0;0 1.70 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypopituitarism 11567216, 18073311 False 3 100;0;0 1.70 True ENSG00000121454 ENSG00000121454 HGNC:21734 LIG4 gene LIG4 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593;microcephaly, growth retardation, immunodeficiency, developmental delay 11779494, 16088910, False 3 100;0;0 1.70 True ENSG00000174405 ENSG00000174405 HGNC:6601 MAP2K1 gene MAP2K1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 16825433, 16439621 False 3 100;0;0 1.70 True ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 16439621 False 3 100;0;0 1.70 True ENSG00000126934 ENSG00000126934 HGNC:6842 NBN gene NBN Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome False 3 100;0;0 1.70 True ENSG00000104320 ENSG00000104320 HGNC:7652 NIPBL gene NIPBL Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia De Lange False 3 100;0;0 1.70 True ENSG00000164190 ENSG00000164190 HGNC:28862 NRAS gene NRAS Expert Review Green;Other IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.) Nat Genet. 42: 27-29, 2010 False 3 0;0;0 1.70 True Other - please provide details in the comments ENSG00000213281 ENSG00000213281 HGNC:7989 OBSL1 gene OBSL1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2, 612921 21737058 False 3 100;0;0 1.70 True ENSG00000124006 ENSG00000124006 HGNC:29092 ORC1 gene ORC1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690;microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia 21358632 False 3 100;0;0 1.70 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, OMIM:613800;micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia 21358632 False 3 100;0;0 1.70 True ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, OMIM:613803;micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia 21358632 False 3 100;0;0 1.70 True ENSG00000091651 ENSG00000091651 HGNC:17151 OTX2 gene OTX2 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly, bilateral anopthalmia, developmental delay, cleft palate 18728160 False 3 100;0;0 1.70 True ENSG00000165588 ENSG00000165588 HGNC:8522 PAPPA2 gene PAPPA2 Expert Review;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density 26902202;33875846 False 3 100;0;0 1.70 True ENSG00000116183 ENSG00000116183 HGNC:14615 PCNT gene PCNT Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 18157127, 18174396 False 3 100;0;0 1.70 True ENSG00000160299 ENSG00000160299 HGNC:16068 PIK3R1 gene PIK3R1 Expert list;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome False 3 100;0;0 1.70 True ENSG00000145675 ENSG00000145675 HGNC:8979 PITX2 gene PITX2 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AXENFELD-RIEGER SYNDROME False 3 100;0;0 1.70 True ENSG00000164093 ENSG00000164093 HGNC:9005 PNPLA6 gene PNPLA6 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism 25480986 False 3 100;0;0 1.70 True ENSG00000032444 ENSG00000032444 HGNC:16268 POU1F1 gene POU1F1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038;Variable degree of TSH deficiency False 3 100;0;0 1.70 True ENSG00000064835 ENSG00000064835 HGNC:9210 PROKR2 gene PROKR2 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy 22319038 False 3 100;0;0 1.70 True ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined False 3 100;0;0 1.70 True ENSG00000175325 ENSG00000175325 HGNC:9455 PTPN11 gene PTPN11 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.70 True Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAD21 gene RAD21 Expert Review Green;Literature;Other IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia De Lange False 3 0;0;0 1.70 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAF1 gene RAF1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy False 3 100;0;0 1.70 True ENSG00000132155 ENSG00000132155 HGNC:9829 RBBP8 gene RBBP8 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal seckel syndrome but with proportionate head/height impairment, cafe au lair macules 24389050, 21998596 False 3 100;0;0 1.70 True ENSG00000101773 ENSG00000101773 HGNC:9891 RIT1 gene RIT1 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy False 3 100;0;0 1.70 True ENSG00000143622 ENSG00000143622 HGNC:10023 RNPC3 gene RNPC3 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 24480542;29866761;32462814;33650182 False 3 100;0;0 1.70 True ENSG00000185946 ENSG00000185946 HGNC:18666 RNU4ATAC gene RNU4ATAC Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal MOPD I 21474760 False 3 100;0;0 1.70 True ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive, OMIM:268310 False 3 100;0;0 1.70 True ENSG00000169071 ENSG00000169071 HGNC:10257 RPL10 gene RPL10 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked, syndromic, 35 300998" 25316788; 25316788; 25316788 False 3 100;0;0 1.70 False ENSG00000147403 ENSG00000147403 HGNC:10298 RPS6KA3 gene RPS6KA3 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin Lowry False 3 100;0;0 1.70 True ENSG00000177189 ENSG00000177189 HGNC:10432 SAMD9 gene SAMD9 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, 617053 27182967 False 3 100;0;0 1.70 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SHOC2 gene SHOC2 Emory Genetics Laboratory;Expert Review Green;Other IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan with loss of anagen hair False 3 0;0;0 1.70 True Other - please provide details in the comments ENSG00000108061 ENSG00000108061 HGNC:15454 SHOX gene SHOX Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582 False 3 100;0;0 1.70 True ENSG00000185960 ENSG00000185960 HGNC:10853 SMC1A gene SMC1A Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cornelia de Lange syndrome 2, OMIM:300590;Cornelia de Lange syndrome 2, MONDO:0010370 False 3 100;0;0 1.70 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia De Lange False 3 100;0;0 1.70 True ENSG00000108055 ENSG00000108055 HGNC:2468 SOS1 gene SOS1 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rasopathy False 3 100;0;0 1.70 True ENSG00000115904 ENSG00000115904 HGNC:11187 SOX2 gene SOX2 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 3 100;0;0 1.70 True ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) 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 15800844 False 3 100;0;0 1.70 True Other - please provide details in the comments ENSG00000134595 ENSG00000134595 HGNC:11199 SRCAP gene SRCAP Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Floating-Harbor syndrome, 136140 False 3 100;0;0 1.70 True ENSG00000080603 ENSG00000080603 HGNC:16974 STAT5B gene STAT5B Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 29844444 False 3 100;0;0 1.70 True ENSG00000173757 ENSG00000173757 HGNC:11367 TBCE gene TBCE Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal False 3 100;0;0 1.70 True ENSG00000116957 ENSG00000116957 HGNC:11582 TRIM37 gene TRIM37 Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Mulibery Nanism False 3 100;0;0 1.70 True ENSG00000108395 ENSG00000108395 HGNC:7523 WRN gene WRN Emory Genetics Laboratory;Expert Review Green IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Werner syndrome False 3 100;0;0 1.70 True ENSG00000165392 ENSG00000165392 HGNC:12791 XRCC4 gene XRCC4 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, OMIM:616541;Short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism 25728776 False 3 100;0;0 1.70 True ENSG00000152422 ENSG00000152422 HGNC:12831 ZFP57 gene ZFP57 Expert Review Green;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Phenotypes consistent with hypomethylation at multiple imprinted loci PMID: 18622393 False 3 0;0;0 1.70 True ENSG00000204644 ENSG00000204644 HGNC:18791 ARCN1 gene ARCN1 Expert Review Amber;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, OMIM:617164 27476655;33154040 False 2 100;0;0 1.70 False ENSG00000095139 ENSG00000095139 HGNC:649 ACAN gene ACAN Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis 24762113 False 1 100;0;0 1.70 True ENSG00000157766 ENSG00000157766 HGNC:319 ATRIP gene ATRIP Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal microcephaly, micrognathia, small ear lobes, dental crowding 23144622 False 1 100;0;0 1.70 True ENSG00000164053 ENSG00000164053 HGNC:33499 ATRX gene ATRX Emory Genetics Laboratory;Expert Review Red IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders SGA, which is sometimes called intrauterine growth restriction (IUGR), False 1 0;25;75 1.70 True ENSG00000085224 ENSG00000085224 HGNC:886 BTK gene BTK Emory Genetics Laboratory;Expert Review Red IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders False 1 100;0;0 1.70 True ENSG00000010671 ENSG00000010671 HGNC:1133 DNA2 gene DNA2 Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal seckel syndrome PMC3912419 False 1 100;0;0 1.70 True ENSG00000138346 ENSG00000138346 HGNC:2939 DOK7 gene DOK7 Expert Review Red;Radboud University Medical Center, Nijmegen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 False 1 0;0;100 1.70 True ENSG00000175920 ENSG00000175920 HGNC:26594 EPHX1 gene EPHX1 Expert Review Red;Radboud University Medical Center, Nijmegen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;100 1.70 True ENSG00000143819 ENSG00000143819 HGNC:3401 FANCM gene FANCM Expert review;Expert Review Red IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi anemia, complementation group M, 614087;Fanconi anemia 16116422;19423727;25078778 False 1 0;0;0 1.70 False ENSG00000187790 ENSG00000187790 HGNC:23168 GHSR gene GHSR Expert Review;Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Idiopathic short stature, GH deficiency 16511605 False 1 0;0;100 1.70 True ENSG00000121853 ENSG00000121853 HGNC:4267 GPR161 gene GPR161 Expert Review;Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk 25322266 False 1 0;0;100 1.70 True ENSG00000143147 ENSG00000143147 HGNC:23694 H19 gene H19 Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders Other - please specifiy in evaluation comments Russell-Silver syndrome False 1 0;0;0 1.70 True ENSG00000130600 ENSG00000130600 HGNC:4713 IFT172 gene IFT172 Expert Review;Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal GH deficiency, retinopathy, metaphyseal dysplasia 25664603 False 1 0;0;100 1.70 True ENSG00000138002 ENSG00000138002 HGNC:30391 IGF2 gene IGF2 Expert Review;Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Pre- and post-natal growth failure; Silver-Russell phenptype;IUGR 26154720 False 1 100;0;0 1.70 True ENSG00000167244 ENSG00000167244 HGNC:5466 LIG1 gene LIG1 Expert Review Red;Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal immunodeficiency, sun sensitivity, growth reatrdation 1581963, 1351188 False 1 100;0;0 1.70 True ENSG00000105486 ENSG00000105486 HGNC:6598 MCM5 gene MCM5 Literature IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal "?Meier-Gorlin syndrome 8 617564" 28198391 False 1 0;0;100 1.70 False ENSG00000100297 ENSG00000100297 HGNC:6948 RAPSN gene RAPSN Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders BIALLELIC, autosomal or pseudoautosomal Fetal Akinesia Deformation Sequence;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150 False 1 0;0;100 1.70 True ENSG00000165917 ENSG00000165917 HGNC:9863 SHOX2 gene SHOX2 Emory Genetics Laboratory;Expert Review Red IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders False 1 0;0;100 1.70 True ENSG00000168779 ENSG00000168779 HGNC:10854 SMARCAL1 gene SMARCAL1 Emory Genetics Laboratory;Expert Review Red IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders False 1 0;0;100 1.70 True ENSG00000138375 ENSG00000138375 HGNC:11102 THRB gene THRB Emory Genetics Laboratory;Expert Review Red IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders False 1 0;0;100 1.70 True ENSG00000151090 ENSG00000151090 HGNC:11799 ISCA-37392-Loss region Expert Review Green;ClinGen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 194050;Williams syndrome 20301427 False 3 0;0;0 1.70 False 7 73330452 74728172 3 60 cnv_loss 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss ISCA-37397-Loss region Expert Review Green;ClinGen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown diaphragmatic hernia;mild skeletal abnormalities;uterine didelphys;611867;DiGeorge syndrome (DGS);clinodactyly;velocardiofacial syndrome;ADHD;Goldenhar syndrome;prematurity;developmental delay;micropephaly;cardiovascular defects;Seizures;global developmental delay;language delay;prenatal and postnatal growth delay;Hyptonia 21671380;23765049;18179902 False 3 0;0;0 1.70 False 22 21562828 23306924 3 60 cnv_loss 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss ISCA-37406-Loss region Expert Review Green;ClinGen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543 10573006;16783566 False 3 0;0;0 1.70 False 16 3725055 3880120 3 60 cnv_loss 16p13.3 region (includes CREBBP) Loss ISCA-37420-Loss region Expert Review Green;ClinGen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome, OMIM:610443;Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature 25217958;18628315 False 3 0;0;0 1.70 False 17 45627800 46087514 3 60 cnv_loss 17q21.3 recurrent region (includes KANSL1) Loss ISCA-37429-Loss region Expert Review Green;ClinGen IUGR and IGF abnormalities Growth hormone disorders Endocrine disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 3 0;0;0 1.70 False 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss