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 ACAN gene ACAN Expert list;Expert Review Green Monogenic short stature Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD);?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD);Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR) 24762113;27870580 False 3 50;50;0 1.31 False ENSG00000157766 ENSG00000157766 HGNC:319 ANAPC1 gene ANAPC1 Expert Review Green;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625 31303264 False 3 0;100;0 1.31 False ENSG00000153107 ENSG00000153107 HGNC:19988 ANKRD11 gene ANKRD11 Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, OMIM:148050 21782149 False 3 50;50;0 1.31 False ENSG00000167522 ENSG00000167522 HGNC:21316 BLM gene BLM Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, OMIM:210900 False 3 50;50;0 1.31 False ENSG00000197299 ENSG00000197299 HGNC:1058 BRAF gene BRAF Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome, OMIM:115150;LEOPARD syndrome 3, OMIM:613707;Noonan syndrome 7, OMIM:613706 16825433;16474404;19206169;21396583 False 3 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 ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA2 gene BRCA2 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1, OMIM:605724 14670928;28185119;11239453;12065746;24395671 False 3 0;100;0 1.31 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J, OMIM:609054 16116423;16116424;16153896;14630800 False 3 0;100;0 1.31 False ENSG00000136492 ENSG00000136492 HGNC:20473 CBL gene CBL Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 20619386;20543203;19571318 False 3 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 ENSG00000110395 ENSG00000110395 HGNC:1541 CCDC8 gene CCDC8 Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, OMIM:614205 21737058 False 3 50;50;0 1.31 False ENSG00000169515 ENSG00000169515 HGNC:25367 CDKN1C gene CDKN1C Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGE syndrome, OMIM:614732 False 3 50;50;0 1.31 False ENSG00000129757 ENSG00000129757 HGNC:1786 CEP57 gene CEP57 Expert Review Green;Other Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 2, OMIM:614114 24259107;21552266 False 3 100;0;0 1.31 False ENSG00000166037 ENSG00000166037 HGNC:30794 COG4 gene COG4 Expert Review Green;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saul-Wilson syndrome, OMIM:618150 31949312;30290151 False 3 0;100;0 1.31 False Other ENSG00000103051 ENSG00000103051 HGNC:18620 CUL7 gene CUL7 Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, OMIM:273750 False 3 50;50;0 1.31 False ENSG00000044090 ENSG00000044090 HGNC:21024 ERCC4 gene ERCC4 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, OMIM:615272 24027083;23623386;23623389 False 3 0;100;0 1.31 False ENSG00000175595 ENSG00000175595 HGNC:3436 FANCA gene FANCA Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A, OMIM:227650 16493006;8896563 False 3 0;100;0 1.31 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green 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) Fanconi anemia, complementation group B, OMIM:300514 False 3 0;100;0 1.31 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, OMIM:227645 16493006;1574115 False 3 0;100;0 1.31 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2, OMIM:227646 11239454 False 3 0;100;0 1.31 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E, OMIM:600901 9147877;9382107;10205272;7662964 False 3 0;100;0 1.31 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F, OMIM:603467 10615118 False 3 0;100;0 1.31 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G, OMIM:614082 16493006;9806548 False 3 0;100;0 1.31 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, OMIM:609053 17452773;11239453 False 3 0;100;0 1.31 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, OMIM:614083 16474160;12724401;25754594;12973351;19405097 False 3 0;100;0 1.31 False ENSG00000115392 ENSG00000115392 HGNC:20748 FBXO22 gene FBXO22 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Tayoun-Maawali syndrome, OMIM:621184 40215970 False 3 100;0;0 1.31 False ENSG00000167196 ENSG00000167196 HGNC:13593 FGFR3 gene FGFR3 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypochondroplasia, OMIM:146000;Crouzon syndrome with acanthosis nigricans, OMIM:612247;Thanatophoric dysplasia, type I, OMIM:187600;Thanatophoric dysplasia, type II, OMIM:187601 False 3 0;100;0 1.31 False ENSG00000068078 ENSG00000068078 HGNC:3690 GH1 gene GH1 Expert Review Green;NHS GMS Monogenic short stature 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;Growth hormone deficiency;Kowarski syndrome, OMIM:262650 False 3 80;20;0 1.31 False ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert Review Green;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Laron dwarfism, OMIM:262500 False 3 0;100;0 1.31 False ENSG00000112964 ENSG00000112964 HGNC:4263 HMGA2 gene HMGA2 Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 5, OMIM:618908 29655892 False 3 67;33;0 1.31 False ENSG00000149948 ENSG00000149948 HGNC:5009 HRAS gene HRAS Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, OMIM:218040 16170316;16969868;16443854;21396583 False 3 50;50;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 ENSG00000174775 ENSG00000174775 HGNC:5173 IGF1 gene IGF1 Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I deficiency, OMIM:608747 False 3 50;50;0 1.31 False ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert list;Expert Review Green Monogenic short stature Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, OMIM:270450 False 3 50;50;0 1.31 False ENSG00000140443 ENSG00000140443 HGNC:5465 IGF2 gene IGF2 Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Silver-Russell syndrome 3, OMIM:616489 26154720 False 3 50;50;0 1.31 False ENSG00000167244 ENSG00000167244 HGNC:5466 IGFALS gene IGFALS Expert Review Green;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Acid-labile subunit, deficiency of, OMIM:615961;short stature due to primary acid-labile subunit deficiency, MONDO:0014420 14762184;16507628;17726072;18303074;20591980;21396577;23488611;24819402;24423360;27018247;30717585;36348166 False 3 0;100;0 1.31 False ENSG00000099769 ENSG00000099769 HGNC:5468 INTS1 gene INTS1 Expert Review Green;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571 28542170;30622326;31428919 False 3 100;0;0 1.31 False ENSG00000164880 ENSG00000164880 HGNC:24555 KRAS gene KRAS Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 2, OMIM:615278;Noonan syndrome 3, OMIM:609942 21396583 False 3 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 ENSG00000133703 ENSG00000133703 HGNC:6407 LZTR1 gene LZTR1 Expert Review Green Monogenic short stature Endocrinology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10, OMIM:616564 (AD);Noonan syndrome 2, OMIM:605275 (AR) 29469822;25795793 False 3 0;100;0 1.31 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, OMIM:615279 16825433;16439621;21396583;23321623 False 3 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 ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4, OMIM:615280 16439621;21396583;23379592 False 3 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 ENSG00000126934 ENSG00000126934 HGNC:6842 MSTO1 gene MSTO1 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675 29339779;28544275;31604776;31130378;28554942;37431817 False 3 50;50;0 1.31 False ENSG00000125459 ENSG00000125459 HGNC:29678 MTX2 gene MTX2 Expert Review;Expert Review Green;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 32917887 False 3 100;0;0 1.31 False ENSG00000128654 ENSG00000128654 HGNC:7506 NBAS gene NBAS Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800 31761904 False 3 0;100;0 1.31 False ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, OMIM:251260 False 3 50;50;0 1.31 False ENSG00000104320 ENSG00000104320 HGNC:7652 NHLRC2 gene NHLRC2 Expert Review Green;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal FINCA syndrome, OMIM:618278 29423877;32435055 False 3 100;0;0 1.31 False ENSG00000196865 ENSG00000196865 HGNC:24731 NPR2 gene NPR2 Expert list;Expert Review Green;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875 False 3 0;0;0 1.31 False ENSG00000159899 ENSG00000159899 HGNC:7944 NRAS gene NRAS Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6, OMIM:613224 19966803;19775298 False 3 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 ENSG00000213281 ENSG00000213281 HGNC:7989 OBSL1 gene OBSL1 Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2, OMIM:612921 21737058 False 3 50;50;0 1.31 False ENSG00000124006 ENSG00000124006 HGNC:29092 PALB2 gene PALB2 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, OMIM:610832 17200672;17200671 False 3 0;100;0 1.31 False ENSG00000083093 ENSG00000083093 HGNC:26144 PIK3R1 gene PIK3R1 Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, OMIM:269880 False 3 50;50;0 1.31 False ENSG00000145675 ENSG00000145675 HGNC:8979 PLAG1 gene PLAG1 Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 4, OMIM:618907 28796236 False 3 33;67;0 1.31 False ENSG00000181690 ENSG00000181690 HGNC:9045 PLK4 gene PLK4 Expert Review Green;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 25344692;25320347;27650967 False 3 0;100;0 1.31 False ENSG00000142731 ENSG00000142731 HGNC:11397 PPP1CB gene PPP1CB Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506 27264673;27681385;28211982 False 3 0;100;0 1.31 False ENSG00000213639 ENSG00000213639 HGNC:9282 PTPN11 gene PTPN11 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1, OMIM:151100;Noonan syndrome 1, OMIM:163950 17603483;11704759;12529711;12634870;15384080;15240615;16263833;17497712;18678287 False 3 0;100;0 1.31 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 2, OMIM:611554;Noonan syndrome 5, OMIM:611553 17603483;17603482 False 3 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 ENSG00000132155 ENSG00000132155 HGNC:9829 RECQL4 gene RECQL4 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, OMIM:268400 25966250;29462647;31406625;34155702;35086131;35781852;37228773;38021400 False 3 100;0;0 1.31 False ENSG00000160957 ENSG00000160957 HGNC:9949 RIT1 gene RIT1 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8, OMIM:615355 23791108;25124994;24939608 False 3 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 ENSG00000143622 ENSG00000143622 HGNC:10023 RRAS2 gene RRAS2 Expert Review;Expert Review Green;NHS GMS Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 12, OMIM:618624 31130282 False 3 100;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 ENSG00000133818 ENSG00000133818 HGNC:17271 RSPRY1 gene RSPRY1 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 26365341;30063090;38562122;39940902 False 3 100;0;0 1.31 False ENSG00000159579 ENSG00000159579 HGNC:29420 SHOC2 gene SHOC2 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like with loose anagen hair 1, OMIM:607721 19684605;22528146;23918763 False 3 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 ENSG00000108061 ENSG00000108061 HGNC:15454 SLC13A1 gene SLC13A1 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal impaired sulfate transport and skeletal dysplasia 39925707 False 3 100;0;0 1.31 False ENSG00000081800 ENSG00000081800 HGNC:10916 SLF2 gene SLF2 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 1, OMIM:620184 36333305 False 3 100;0;0 1.31 False ENSG00000119906 ENSG00000119906 HGNC:17814 SLX4 gene SLX4 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, OMIM:613951 21240277;21240275 False 3 0;100;0 1.31 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMC5 gene SMC5 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 2, OMIM:620185 36333305 False 3 100;0;0 1.31 False ENSG00000198887 ENSG00000198887 HGNC:20465 SOS1 gene SOS1 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4, OMIM:610733 17143285;17143282;17586837;19438935 False 3 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 ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9, OMIM:616559 26173643;25795793 False 3 0;100;0 1.31 False ENSG00000100485 ENSG00000100485 HGNC:11188 SPOUT1 gene SPOUT1 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 39962046 False 3 100;0;0 1.31 False ENSG00000198917 ENSG00000198917 HGNC:26933 SPRED2 gene SPRED2 Expert Review Green;Literature;NHS GMS Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Noonan syndrome 14, OMIM:619745 34626534 False 3 100;0;0 1.31 False ENSG00000198369 ENSG00000198369 HGNC:17722 SRCAP gene SRCAP Expert list;Expert Review Green Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Floating-Harbor syndrome, OMIM:136140 False 3 50;50;0 1.31 False ENSG00000080603 ENSG00000080603 HGNC:16974 STAT5B gene STAT5B Expert Review Green;NHS GMS Monogenic short stature Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590;Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 16787985;15827093;17030597;26703237;29844444 False 3 0;100;0 1.31 False ENSG00000173757 ENSG00000173757 HGNC:11367 TOP3A gene TOP3A Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097 False 3 0;100;0 1.31 False ENSG00000177302 ENSG00000177302 HGNC:11992 TRIM37 gene TRIM37 Expert list;Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism, OMIM:253250 False 3 50;50;0 1.31 False ENSG00000108395 ENSG00000108395 HGNC:7523 UBE2T gene UBE2T Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T, OMIM:616435 26046368 False 3 0;100;0 1.31 False ENSG00000077152 ENSG00000077152 HGNC:25009 ZFP57 gene ZFP57 Expert Review Green Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal 1, OMIM:601410 18622393 False 3 50;50;0 1.31 False ENSG00000204644 ENSG00000204644 HGNC:18791 CCDC186 gene CCDC186 Expert Review Amber;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal failure to thrive and developmental delay 33259146;28600779 False 2 0;100;0 1.31 False ENSG00000165813 ENSG00000165813 HGNC:24349 FOXP4 gene FOXP4 Expert Review Amber;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder;multiple congenital abnormalities 33110267 False 2 0;100;0 1.31 False ENSG00000137166 ENSG00000137166 HGNC:20842 GGPS1 gene GGPS1 Expert Review Amber;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 32403198 False 2 100;0;0 1.31 False ENSG00000152904 ENSG00000152904 HGNC:4249 KDM3B gene KDM3B Expert Review Amber;Victorian Clinical Genetics Services Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012 30929739 False 2 50;50;0 1.31 False ENSG00000120733 ENSG00000120733 HGNC:1337 LRRC8C gene LRRC8C Expert Review Amber;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted TIMES syndrome, OMIM:621056 39623139 False 2 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 ENSG00000171488 ENSG00000171488 HGNC:25075 MAPK1 gene MAPK1 Expert Review;Expert Review Amber Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 13, OMIM:619087 32721402 False 2 100;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 ENSG00000100030 ENSG00000100030 HGNC:6871 MRAS gene MRAS Expert Review;Expert Review Amber Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11, OMIM:618499 28289718;31173466;31108500;34080768 False 2 100;0;0 1.31 False ENSG00000158186 ENSG00000158186 HGNC:7227 NF1 gene NF1 Expert list;Expert Review Amber Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis-Noonan syndrome, OMIM:601321 26178382;27247625;30602027;35633639;36373817 False 2 0;0;0 1.31 False ENSG00000196712 ENSG00000196712 HGNC:7765 NLRP2 gene NLRP2 Expert list;Expert Review Amber Monogenic short stature Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 18, OMIM:620332;oocyte/zygote/embryo maturation arrest 18, MONDO:0957230 26323243;29574422;19300480;30877238;33090377 False 2 0;100;0 1.31 False ENSG00000022556 ENSG00000022556 HGNC:22948 NLRP5 gene NLRP5 Expert list;Expert Review Amber Monogenic short stature Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Oocyte/zygote/embryo maturation arrest 19, OMIM:620333;oocyte/zygote/embryo maturation arrest 19, MONDO:0957231 26323243;29574422 False 2 100;0;0 1.31 False ENSG00000171487 ENSG00000171487 HGNC:21269 NLRP7 gene NLRP7 Expert list;Expert Review Amber Monogenic short stature Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "IUGR;Short stature;fetal wastage;Multi Locus Imprinting Disturbance;Hydatidiform mole, recurrent, 1 OMIM:231090;hydatidiform mole, recurrent, 1 MONDO:0009273" 28561018 False 2 100;0;0 1.31 False ENSG00000167634 ENSG00000167634 HGNC:22947 PADI6 gene PADI6 Expert Review;Expert Review Amber Monogenic short stature Endocrinology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Short stature;IUGR;miscarriages in the family;Preimplantation embryonic lethality 2 OMIM:617234;preimplantation embryonic lethality 2 MONDO:0014978;Beckwith-Wiedemann syndrome;Multi Locus Imprinting Disturbance 32928291;29574422;33221824 False 2 100;0;0 1.31 False ENSG00000256049 ENSG00000276747 HGNC:20449 QSOX2 gene QSOX2 Expert Review Amber;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Maharaj Storr Syndrome 39341815 False 2 0;100;0 1.31 False ENSG00000165661 ENSG00000165661 HGNC:30249 RAD51 gene RAD51 Expert Review Amber;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R, OMIM:617244 26681308;26253028;30907510 False 2 100;0;0 1.31 False ENSG00000051180 ENSG00000051180 HGNC:9817 RAP1B gene RAP1B Expert Review Amber;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic intellectual disability;short stature 32627184;26280580 False 2 0;100;0 1.31 False ENSG00000127314 ENSG00000127314 HGNC:9857 RASA2 gene RASA2 Expert list;Expert Review Amber;NHS GMS Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 25049390 False 2 0;0;0 1.31 False ENSG00000155903 ENSG00000155903 HGNC:9872 SETD5 gene SETD5 Expert Review Amber;Literature Monogenic short stature Endocrinology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 23, OMIM:615761 28881385 False 2 100;0;0 1.31 False ENSG00000168137 ENSG00000168137 HGNC:25566 SHOX gene SHOX Expert Review Amber;NHS GMS Monogenic short stature Endocrinology 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 2 0;100;0 1.31 False ENSG00000185960 ENSG00000185960 HGNC:10853 VPS50 gene VPS50 Expert Review Amber;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 34037727 False 2 0;100;0 1.31 False ENSG00000004766 ENSG00000004766 HGNC:25956 ZNF668 gene ZNF668 Expert Review Amber;Literature Monogenic short stature Endocrinology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 34313816;26633546 False 2 0;100;0 1.31 False ENSG00000167394 ENSG00000167394 HGNC:25821 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