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 A2ML1 gene A2ML1 Expert list;Expert Review Red;NHS GMS Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 24939586;25862627 False 1 0;0;0 1.31 False ENSG00000166535 ENSG00000166535 HGNC:23336 ATRIP gene ATRIP Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephalic primordial dwarfism;Microcephaly, micrognathia, small ear lobes, dental crowding 23144622 False 1 0;0;0 1.31 False ENSG00000164053 ENSG00000164053 HGNC:33499 ATRX gene ATRX Expert Review Red Monogenic short stature Endocrinology Unknown SGA, which is sometimes called intrauterine growth restriction (IUGR), False 1 0;0;0 1.31 False ENSG00000085224 ENSG00000085224 HGNC:886 BTK gene BTK Expert Review Red Monogenic short stature Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200 8013627;7849697;9554752 False 1 50;0;50 1.31 False ENSG00000010671 ENSG00000010671 HGNC:1133 CDC6 gene CDC6 Expert list;Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5, OMIM:613805;patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia 21358632 False 1 50;50;0 1.31 False ENSG00000094804 ENSG00000094804 HGNC:1744 CDT1 gene CDT1 Expert list;Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, OMIM:613804 21358632 False 1 50;50;0 1.31 False ENSG00000167513 ENSG00000167513 HGNC:24576 CENPJ gene CENPJ Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal seckel syndrome 20522431 False 1 0;100;0 1.31 False ENSG00000151849 ENSG00000151849 HGNC:17272 CHD7 gene CHD7 Expert Review Red Monogenic short stature Endocrinology 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 1 0;100;0 1.31 False ENSG00000171316 ENSG00000171316 HGNC:20626 COL1A1 gene COL1A1 Expert list Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OI;Osteogenesis imperfecta, type II, 166210;Osteogenesis imperfecta, type III, 259420;Osteogenesis imperfecta, type I, 166200;Osteogenesis imperfecta, type IV, 166220 False 1 100;0;0 1.31 False ENSG00000108821 ENSG00000108821 HGNC:2197 CREBBP gene CREBBP Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubenstein Taybi False 1 0;100;0 1.31 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert Review Red Monogenic short stature Endocrinology 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 1 0;100;0 1.31 False ENSG00000119878 ENSG00000119878 HGNC:14312 DHCR7 gene DHCR7 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Smith Lemli Opitz False 1 0;100;0 1.31 False ENSG00000172893 ENSG00000172893 HGNC:2860 DNA2 gene DNA2 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, OMIM:615807 24389050;31045292 False 1 0;0;0 1.31 False ENSG00000138346 ENSG00000138346 HGNC:2939 DOK7 gene DOK7 Expert Review Red Monogenic short stature Endocrinology Unknown Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 False 1 0;0;0 1.31 False ENSG00000175920 ENSG00000175920 HGNC:26594 EP300 gene EP300 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubenstein Taybi False 1 0;100;0 1.31 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPHX1 gene EPHX1 Expert Review Red Monogenic short stature Endocrinology Unknown ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 False 1 0;0;0 1.31 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC6 gene ERCC6 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type B, 133540 False 1 0;100;0 1.31 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal cockayne False 1 0;100;0 1.31 False ENSG00000049167 ENSG00000049167 HGNC:3439 FANCM gene FANCM Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group M, 614087 16116422;19423727;25078778 False 1 0;0;0 1.31 False ENSG00000187790 ENSG00000187790 HGNC:23168 FGD1 gene FGD1 Expert Review Red Monogenic short stature Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog False 1 0;100;0 1.31 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGF8 gene FGF8 Expert Review Red Monogenic short stature Endocrinology 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 1 0;100;0 1.31 False ENSG00000107831 ENSG00000107831 HGNC:3686 FGFR1 gene FGFR1 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 22319038 False 1 0;100;0 1.31 False ENSG00000077782 ENSG00000077782 HGNC:3688 GAP43 gene GAP43 Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;intellectual disability, MONDO:0001071 39738362 False 1 0;0;100 1.31 False ENSG00000172020 ENSG00000172020 HGNC:4140 GHRHR gene GHRHR Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency False 1 0;100;0 1.31 False ENSG00000106128 ENSG00000106128 HGNC:4266 GHSR gene GHSR Expert Review Red Monogenic short stature Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Idiopathic short stature, GH deficiency 16511605 False 1 0;0;0 1.31 False ENSG00000121853 ENSG00000121853 HGNC:4267 GINS2 gene GINS2 Expert Review Red;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome like;Meier-Gorlin syndrome, MONDO:0016817 34353863 False 1 0;100;0 1.31 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000131153 ENSG00000131153 HGNC:24575 GINS3 gene GINS3 Expert Review Red;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome like;Meier-Gorlin syndrome, MONDO:0016817 35603789 False 1 100;0;0 1.31 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000181938 ENSG00000181938 HGNC:25851 GLI2 gene GLI2 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly, hypopituitarism False 1 0;100;0 1.31 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome, OMIM:146510 9054938 False 1 0;100;0 1.31 False ENSG00000106571 ENSG00000106571 HGNC:4319 GPR161 gene GPR161 Expert Review Red Monogenic short stature Endocrinology 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;0 1.31 False ENSG00000143147 ENSG00000143147 HGNC:23694 H19 gene H19 Expert Review Red Monogenic short stature Endocrinology Other Russell-Silver syndrome False 1 0;0;0 1.31 False ENSG00000130600 ENSG00000130600 HGNC:4713 HDAC8 gene HDAC8 Expert Review Red Monogenic short stature Endocrinology 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 1 0;100;0 1.31 False ENSG00000147099 ENSG00000147099 HGNC:13315 HESX1 gene HESX1 Expert Review Red Monogenic short stature 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 False 1 0;100;0 1.31 False ENSG00000163666 ENSG00000163666 HGNC:4877 IFT172 gene IFT172 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal GH deficiency, retinopathy, metaphyseal dysplasia 25664603 False 1 0;0;0 1.31 False ENSG00000138002 ENSG00000138002 HGNC:30391 IGFBP1 gene IGFBP1 Expert Review Red Monogenic short stature Endocrinology Unknown Silver-Russell Syndrome 10364674 False 1 0;0;0 1.31 False ENSG00000146678 ENSG00000146678 HGNC:5469 IGFBP3 gene IGFBP3 Expert Review Red Monogenic short stature Endocrinology Unknown Silver Russell Syndrome 10364674 False 1 0;0;0 1.31 False ENSG00000146674 ENSG00000146674 HGNC:5472 INSR gene INSR Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Leprechaunism False 1 0;100;0 1.31 False ENSG00000171105 ENSG00000171105 HGNC:6091 INTS8 gene INTS8 Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 28542170 False 1 0;0;100 1.31 False ENSG00000164941 ENSG00000164941 HGNC:26048 KDM6A gene KDM6A Expert Review Red Monogenic short stature Endocrinology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2, OMIM:300867 23913813;29914387;31654559;33674768 False 1 0;100;0 1.31 False ENSG00000147050 ENSG00000147050 HGNC:12637 KHDC3L gene KHDC3L Expert list;Expert Review Red Monogenic short stature Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal IUGR;Failure to thrive;Hydatidiform mole, recurrent, 2 OMIM:614293;hydatidiform mole, recurrent, 2 MONDO:0013671;pregnancy loss 29574422 False 1 0;0;100 1.31 False ENSG00000203908 ENSG00000203908 HGNC:33699 KMT2D gene KMT2D Expert Review Red;NHS GMS Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, OMIM:147920 31949313;32083401;21882399 False 1 50;50;0 1.31 False ENSG00000167548 ENSG00000167548 HGNC:7133 LHX3 gene LHX3 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal GH, TSH, LH, FSH, PRL deficiencies False 1 0;100;0 1.31 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypopituitarism 11567216, 18073311 False 1 0;100;0 1.31 False ENSG00000121454 ENSG00000121454 HGNC:21734 LIG1 gene LIG1 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal immunodeficiency, sun sensitivity, growth reatrdation 1581963;1351188 False 1 0;0;0 1.31 False ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, OMIM:606593;microcephaly, growth retardation, immunodeficiency, developmental delay 11779494;16088910 False 1 0;100;0 1.31 False ENSG00000174405 ENSG00000174405 HGNC:6601 MCM5 gene MCM5 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Meier-Gorlin syndrome 8 28198391 False 1 0;0;0 1.31 False ENSG00000100297 ENSG00000100297 HGNC:6948 NIPBL gene NIPBL Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia De Lange False 1 0;100;0 1.31 False ENSG00000164190 ENSG00000164190 HGNC:28862 ORC1 gene ORC1 Expert list;Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, OMIM:224690 21358632 False 1 50;50;0 1.31 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert list;Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, OMIM:613800 21358632 False 1 50;50;0 1.31 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert list;Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, OMIM:613803 21358632 False 1 50;50;0 1.31 False ENSG00000091651 ENSG00000091651 HGNC:17151 OTX2 gene OTX2 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microcephaly, bilateral anopthalmia, developmental delay, cleft palate 18728160 False 1 0;100;0 1.31 False ENSG00000165588 ENSG00000165588 HGNC:8522 PAPPA2 gene PAPPA2 Expert Review Red;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Short stature, Dauber-Argente type, OMIM:619489 26902202;33875846;34272725;31555216 False 1 50;50;0 1.31 False ENSG00000116183 ENSG00000116183 HGNC:14615 PCNT gene PCNT Expert list;Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 18157127;18174396 False 1 50;50;0 1.31 False ENSG00000160299 ENSG00000160299 HGNC:16068 PITX2 gene PITX2 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted AXENFELD-RIEGER SYNDROME False 1 0;100;0 1.31 False ENSG00000164093 ENSG00000164093 HGNC:9005 PNPLA6 gene PNPLA6 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism 25480986 False 1 0;100;0 1.31 False ENSG00000032444 ENSG00000032444 HGNC:16268 POU1F1 gene POU1F1 Expert Review Red Monogenic short stature Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038;Variable degree of TSH deficiency False 1 0;100;0 1.31 False ENSG00000064835 ENSG00000064835 HGNC:9210 PROKR2 gene PROKR2 Expert Review Red Monogenic short stature Endocrinology 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 1 0;100;0 1.31 False ENSG00000101292 ENSG00000101292 HGNC:15836 PROP1 gene PROP1 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined False 1 0;100;0 1.31 False ENSG00000175325 ENSG00000175325 HGNC:9455 RAD21 gene RAD21 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, OMIM:614701 False 1 0;100;0 1.31 False ENSG00000164754 ENSG00000164754 HGNC:9811 RAPSN gene RAPSN Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fetal akinesia deformation sequence 2, OMIM:618388;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 False 1 0;0;0 1.31 False ENSG00000165917 ENSG00000165917 HGNC:9863 RBBP8 gene RBBP8 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal seckel syndrome but with proportionate head/height impairment, cafe au lair macules 24389050;21998596 False 1 0;100;0 1.31 False ENSG00000101773 ENSG00000101773 HGNC:9891 RNPC3 gene RNPC3 Expert Review Red;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 24480542;29866761;32462814;33650182 False 1 20;20;60 1.31 False ENSG00000185946 ENSG00000185946 HGNC:18666 RNU4ATAC gene RNU4ATAC Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Lowry-Wood syndrome, OMIM:226960;Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 21474760 False 1 0;100;0 1.31 False ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive, OMIM:268310 False 1 0;100;0 1.31 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPL10 gene RPL10 Expert Review Red Monogenic short stature Endocrinology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35 25316788 False 1 0;100;0 1.31 False ENSG00000147403 ENSG00000147403 HGNC:10298 RPS6KA3 gene RPS6KA3 Expert Review Red Monogenic short stature Endocrinology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin Lowry False 1 0;100;0 1.31 False ENSG00000177189 ENSG00000177189 HGNC:10432 RREB1 gene RREB1 Expert Review Red;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RASopathy, MONDO:0021060 38332451;40418122 False 1 50;0;50 1.31 False ENSG00000124782 ENSG00000124782 HGNC:10449 SAMD9 gene SAMD9 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, 617053 27182967 False 1 0;100;0 1.31 False ENSG00000205413 ENSG00000205413 HGNC:1348 SHOX2 gene SHOX2 Expert Review Red Monogenic short stature Endocrinology Unknown False 1 0;0;0 1.31 False ENSG00000168779 ENSG00000168779 HGNC:10854 SMARCAL1 gene SMARCAL1 Expert Review Red Monogenic short stature Endocrinology Unknown False 1 0;0;0 1.31 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMC1A gene SMC1A Expert Review Red Monogenic short stature Endocrinology 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;Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044;Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 False 1 0;100;0 1.31 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia De Lange False 1 0;100;0 1.31 False ENSG00000108055 ENSG00000108055 HGNC:2468 SOX2 gene SOX2 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;100;0 1.31 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 Expert Review Red Monogenic short stature Endocrinology 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 1 0;100;0 1.31 False ENSG00000134595 ENSG00000134595 HGNC:11199 SPRED1 gene SPRED1 Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius Syndrome;Neurofibromatosis-like syndrome 19443465;21548021;21649642;19366998;17704776 False 1 0;100;0 1.31 False ENSG00000166068 ENSG00000166068 HGNC:20249 TBCE gene TBCE Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal False 1 0;100;0 1.31 False ENSG00000116957 ENSG00000116957 HGNC:11582 THRB gene THRB Expert Review Red Monogenic short stature Endocrinology Unknown False 1 0;0;0 1.31 False ENSG00000151090 ENSG00000151090 HGNC:11799 WRN gene WRN Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Werner syndrome False 1 0;100;0 1.31 False ENSG00000165392 ENSG00000165392 HGNC:12791 XRCC4 gene XRCC4 Expert Review Red Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, OMIM:616541 25728776 False 1 0;100;0 1.31 False ENSG00000152422 ENSG00000152422 HGNC:12831 ZPR1 gene ZPR1 Expert Review Red;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 29851065 False 1 0;0;100 1.31 False ENSG00000109917 ENSG00000109917 HGNC:13051 ISCA-37392-Loss region ClinGen;Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Williams-Beuren syndrome, OMIM:194050 20301427 False 1 0;0;0 1.31 False 7 73330452 74728172 3 60 cnv_loss 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss ISCA-37397-Loss region ClinGen;Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867 18179902;23765049;21671380 False 1 0;0;0 1.31 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 ClinGen;Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Chromosome 16p13.3 deletion syndrome, OMIM:610543 16783566;10573006 False 1 0;0;0 1.31 False 16 3725055 3880120 3 60 cnv_loss 16p13.3 region (includes CREBBP) Loss ISCA-37420-Loss region ClinGen;Expert Review Red Monogenic short stature Endocrinology 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 1 0;0;0 1.31 False 17 45627800 46087514 3 60 cnv_loss 17q21.3 recurrent region (includes KANSL1) Loss ISCA-37429-Loss region ClinGen;Expert Review Red Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolf-Hirschhorn syndrome, OMIM:194190 20026556;14630905 False 1 0;0;0 1.31 False 4 337779 2009235 3 60 cnv_loss 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss