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 Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, MIM# 165800;Spondyloepimetaphyseal dysplasia, aggrecan type, MIM# 612813 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24762113;27870580;19110214;30124491;28331218;20137779 False 3 100;0;0 1.76 True ENSG00000157766 ENSG00000157766 HGNC:319 ANAPC1 gene ANAPC1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Failure to thrive;HP:0001508; Growth delay;HP:0001510 31303264 False 3 100;0;0 1.76 True ENSG00000153107 ENSG00000153107 HGNC:19988 ANKRD11 gene ANKRD11 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted KBG syndrome, MIM# 148050 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21782149;33955014;32258089;32124548;31191201;29565525;28449295 False 3 100;0;0 1.76 True ENSG00000167522 ENSG00000167522 HGNC:21316 ANTXR1 gene ANTXR1 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, MIM# 230740 Failure to thrive;HP:0001508; Growth delay;HP:0001510 23602711;25045128;31425299;30575274;29436111;28870703 False 3 100;0;0 1.76 True ENSG00000169604 ENSG00000169604 HGNC:21014 ATM gene ATM Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM# 208900 Failure to thrive;HP:0001508; Growth delay;HP:0001510 30137827 False 3 100;0;0 1.76 True ENSG00000149311 ENSG00000149311 HGNC:795 ATR gene ATR Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 1, MIM# 210600 Failure to thrive;HP:0001508; Growth delay;HP:0001510 12640452;19620979;30199583;23111928 False 3 100;0;0 1.76 True ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX Expert Review Green;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ATR-X-related syndrome MONDO:0016980 Failure to thrive;HP:0001508; Growth delay;HP:0001510 20301622 False 3 100;0;0 1.76 True ENSG00000085224 ENSG00000085224 HGNC:886 BAP1 gene BAP1 Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kury-Isidor syndrome , MIM#619762" Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 35051358 False 3 100;0;0 1.76 True ENSG00000163930 ENSG00000163930 HGNC:950 BLM gene BLM Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000197299 ENSG00000197299 HGNC:1058 BRAF gene BRAF Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 7, MIM# 613706;Cardiofaciocutaneous syndrome, MIM# 115150 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16474404;21396583;16825433;19206169;18042262 False 3 100;0;0 1.76 True 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 BRCA1 gene BRCA1 Expert list;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal "Fanconi anaemia, complementation group S, MIM# 617883" Failure to thrive;HP:0001508; Growth delay;HP:0001510 23269703;29133208;25472942;29712865 False 3 100;0;0 1.76 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24395671;11239453;14670928;12065746;28185119 False 3 100;0;0 1.76 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRD4 gene BRD4 Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome, MONDO:0016033 Failure to thrive;HP:0001508; Growth delay;HP:0001510 29379197;30302754;11997514;34035299 False 3 100;0;0 1.76 True ENSG00000141867 ENSG00000141867 HGNC:13575 BRIP1 gene BRIP1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group J, MIM# 609054 Failure to thrive;HP:0001508; Growth delay;HP:0001510 14630800;16153896;16116424;16116423 False 3 100;0;0 1.76 True ENSG00000136492 ENSG00000136492 HGNC:20473 BTK gene BTK Expert Review Green;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, biallelic mutations in females Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200 Failure to thrive;HP:0001508; Growth delay;HP:0001510 8013627;7849697;9554752 False 3 100;0;0 1.76 True ENSG00000010671 ENSG00000010671 HGNC:1133 BUB1B gene BUB1B Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 1, MIM#257300 Failure to thrive;HP:0001508; Growth delay;HP:0001510 18548531 False 3 100;0;0 1.76 True ENSG00000156970 ENSG00000156970 HGNC:1149 CBL gene CBL Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563;CBL-related disorder, MONDO:0013308 Failure to thrive;HP:0001508; Growth delay;HP:0001510 20619386;20543203;19571318 False 3 100;0;0 1.76 True 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 Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 3, MIM# 614205 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21737058;22325252;28675896;28675896 False 3 100;0;0 1.76 True ENSG00000169515 ENSG00000169515 HGNC:25367 CDC45 gene CDC45 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 7, MIM 617063 Failure to thrive;HP:0001508; Growth delay;HP:0001510 31474763;27374770 False 3 100;0;0 1.76 True ENSG00000093009 ENSG00000093009 HGNC:1739 CDKN1C gene CDKN1C Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGe syndrome, MIM# 614732;Silver-Russell syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 22634751;33076988;31976094;31497289 False 3 100;0;0 1.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000129757 ENSG00000129757 HGNC:1786 CDT1 gene CDT1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM# 613804;MONDO:0013431 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21358632;21358631;33338304;22333897 False 3 100;0;0 1.76 True ENSG00000167513 ENSG00000167513 HGNC:24576 CEP152 gene CEP152 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal "Seckel syndrome 5, MIM# 613823" Failure to thrive;HP:0001508; Growth delay;HP:0001510 21131973 False 3 100;0;0 1.76 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP295 gene CEP295 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 11, OMIM # 620767 Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 38154379 False 3 100;0;0 1.76 True ENSG00000166004 ENSG00000166004 HGNC:29366 CEP57 gene CEP57 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 2, MIM#614114 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24259107;21552266;30147898;32861809 False 3 100;0;0 1.76 True ENSG00000166037 ENSG00000166037 HGNC:30794 CHD7 gene CHD7 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16400610 False 3 100;0;0 1.76 True ENSG00000171316 ENSG00000171316 HGNC:20626 COG4 gene COG4 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Saul-Wilson syndrome, OMIM:618150;Microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Failure to thrive;HP:0001508; Growth delay;HP:0001510 30290151;31949312 False 3 100;0;0 1.76 True Other ENSG00000103051 ENSG00000103051 HGNC:18620 CREBBP gene CREBBP Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1, MIM# 180849;Menke-Hennekam syndrome 1, MIM# 618332 Failure to thrive;HP:0001508; Growth delay;HP:0001510 10699051;17855048;27311832;29460469 False 3 100;0;0 1.76 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRIPT gene CRIPT Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Short stature with microcephaly and distinctive facies (MIM#615789);Rothmund-Thomson syndrome MONDO:0010002 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24389050;27250922;36630262;37013901 False 3 50;50;0 1.76 True ENSG00000119878 ENSG00000119878 HGNC:14312 CUL7 gene CUL7 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, MIM# 273750;Yakut short stature syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 16142236;19225462;17675530 False 3 100;0;0 1.76 True ENSG00000044090 ENSG00000044090 HGNC:21024 DDX11 gene DDX11 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Warsaw breakage syndrome, MIM# 613398;MONDO:0013252 Failure to thrive;HP:0001508; Growth delay;HP:0001510 20137776;23033317;30216658 False 3 100;0;0 1.76 True ENSG00000013573 ENSG00000013573 HGNC:2736 DHCR7 gene DHCR7 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000172893 ENSG00000172893 HGNC:2860 DNA2 gene DNA2 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 8, MIM:615807 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24389050;31045292 False 3 100;0;0 1.76 True ENSG00000138346 ENSG00000138346 HGNC:2939 DNMT3B gene DNMT3B Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860" Failure to thrive;HP:0001508; Growth delay;HP:0001510 10647011;23486536 False 3 100;0;0 1.76 True ENSG00000088305 ENSG00000088305 HGNC:2979 DRG1 gene DRG1 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Tan-Almurshedi syndrome, MIM# 620641 Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 37179472 False 3 100;0;0 1.76 True ENSG00000185721 ENSG00000185721 HGNC:3029 EP300 gene EP300 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 2, MIM# 613684;Menke-Hennekam syndrome , MIM#2 618333 Failure to thrive;HP:0001508; Growth delay;HP:0001510 29506490;29460469 False 3 100;0;0 1.76 True ENSG00000100393 ENSG00000100393 HGNC:3373 ERCC2 gene ERCC2 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 2, MIM# 610756;Trichothiodystrophy 1, photosensitive, MIM# 601675 Failure to thrive;HP:0001508; Growth delay;HP:0001510 7849702;9758621;11443545;33733458 False 3 100;0;0 1.76 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 2, photosensitive, MIM# 616390;Xeroderma pigmentosum, group B 61, MIM#0651 Failure to thrive;HP:0001508; Growth delay;HP:0001510 2167179;10447254;16947863;9012405;32557569;27004399 False 3 100;0;0 1.76 True ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, MIM# 615272;MONDO:0014108;XFE progeroid syndrome, MIM# 610965;MONDO:0012590 Failure to thrive;HP:0001508; Growth delay;HP:0001510 23623386;23623389;24027083;8797827;17183314;29105242 False 3 100;0;0 1.76 True ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570;MONDO:0014696;Xeroderma pigmentosum, group G, MIM# 278780;MONDO:0010216 Failure to thrive;HP:0001508; Growth delay;HP:0001510 7951246;9096355;9096355;24700531;33766032;33219753 False 3 100;0;0 1.76 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 1, MIM# 214150;MONDO:0008955;Cockayne syndrome, type B, MIM# 133540;MONDO:0019570 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400;MONDO:0019569 Failure to thrive;HP:0001508; Growth delay;HP:0001510 7664335;19894250 False 3 100;0;0 1.76 True ENSG00000049167 ENSG00000049167 HGNC:3439 FAM111A gene FAM111A Expert Review;Expert Review Green Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Kenny-Caffey syndrome, type 2, MIM@ 127000" Failure to thrive;HP:0001508; Growth delay;HP:0001510 32996714;23684011 False 3 100;0;0 1.76 True ENSG00000166801 ENSG00000166801 HGNC:24725 FANCA gene FANCA Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16493006;8896563;10094191 False 3 100;0;0 1.76 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514 Failure to thrive;HP:0001508; Growth delay;HP:0001510 15502827 False 3 100;0;0 1.76 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645;MONDO:0009213 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16493006;1574115;31044565;30792206;28717661 False 3 100;0;0 1.76 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646 Failure to thrive;HP:0001508; Growth delay;HP:0001510 11239454 False 3 100;0;0 1.76 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group E, MIM# 600901;MONDO:0010953 Failure to thrive;HP:0001508; Growth delay;HP:0001510 11001585;31586946;7662964;9382107;9147877;10205272 False 3 100;0;0 1.76 True ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group F 603467;MONDO:0011325 Failure to thrive;HP:0001508; Growth delay;HP:0001510 10615118;31288759 False 3 100;0;0 1.76 True ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group G, MIM# 614082;MONDO:0013565 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16493006;9806548;9806548;12552564 False 3 100;0;0 1.76 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I, MIM# 609053;MONDO:0012186 Failure to thrive;HP:0001508; Growth delay;HP:0001510 17452773;11239453 False 3 100;0;0 1.76 True ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L, MIM# 614083;MONDO:0013566 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25754594;12724401;19405097;12973351;16474160;33394227;33224012 False 3 100;0;0 1.76 True ENSG00000115392 ENSG00000115392 HGNC:20748 FGD1 gene FGD1 Expert Review Green;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome, MIM # 305400 Failure to thrive;HP:0001508; Growth delay;HP:0001510 7954831;20082460 False 3 100;0;0 1.76 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGFR3 gene FGFR3 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypochondroplasia, MIM#146000 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000068078 ENSG00000068078 HGNC:3690 FOSL2 gene FOSL2 Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aplasia cutis-enamel dysplasia syndrome, MIM# 620789 Failure to thrive;HP:0001508; Growth delay;HP:0001510 36197437 False 3 100;0;0 1.76 True ENSG00000075426 ENSG00000075426 HGNC:3798 FOXP4 gene FOXP4 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;multiple congenital abnormalities;short stature Failure to thrive;HP:0001508; Growth delay;HP:0001510 33110267 False 3 100;0;0 1.76 True ENSG00000137166 ENSG00000137166 HGNC:20842 FRA10AC1 gene FRA10AC1 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, MIM# 620113 Failure to thrive;HP:0001508; Growth delay;HP:0001510 34694367 False 3 100;0;0 1.76 True ENSG00000148690 ENSG00000148690 HGNC:1162 GH1 gene GH1 Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IA, MIM# 262400;Growth hormone deficiency, isolated, type II, MIM# 173100;Kowarski syndrome, MIM# 262650 Failure to thrive;HP:0001508; Growth delay;HP:0001510 2840669;1603635;12655557;15671105;8552145;9276733;15713716 False 3 100;0;0 1.76 True ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity, partial, MIM# 604271;Laron dwarfism, MIM# 262500 Failure to thrive;HP:0001508; Growth delay;HP:0001510 1999489;8488849;7565946 False 3 100;0;0 1.76 True ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IV, MIM# 618157 Failure to thrive;HP:0001508; Growth delay;HP:0001510 8528260;10084571;11232012 False 3 100;0;0 1.76 True ENSG00000106128 ENSG00000106128 HGNC:4266 GINS3 gene GINS3 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome, MONDO:0016817, GINS3-related Failure to thrive;HP:0001508; Growth delay;HP:0001510 35603789 False 3 100;0;0 1.76 True ENSG00000181938 ENSG00000181938 HGNC:25851 GLI2 gene GLI2 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Culler-Jones syndrome, MIM#615849;Holoprosencephaly 9, MIM# 61082 Failure to thrive;HP:0001508; Growth delay;HP:0001510 14581620;17096318;33235745;27585885;15994174;20685856;30629636;30583238 False 3 100;0;0 1.76 True ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome, MIM# 146510 Failure to thrive;HP:0001508; Growth delay;HP:0001510 9054938;10945658;11693785 False 3 100;0;0 1.76 True ENSG00000106571 ENSG00000106571 HGNC:4319 GTF2H5 gene GTF2H5 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 3, photosensitive, MIM# 616395;MONDO:0014619 Failure to thrive;HP:0001508; Growth delay;HP:0001510 15220921;30359777;24986372 False 3 100;0;0 1.76 True ENSG00000272047 ENSG00000272047 HGNC:21157 HDAC8 gene HDAC8 Expert Review Green;Genomics England PanelApp Growth failure 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 5, MIM# 300882 Failure to thrive;HP:0001508; Growth delay;HP:0001510 30614194;24403048 False 3 100;0;0 1.76 True ENSG00000147099 ENSG00000147099 HGNC:13315 HEATR3 gene HEATR3 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability;Diamond-Blackfan anaemia 21, MIM# 620072 Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 35213692 False 3 100;0;0 1.76 True ENSG00000155393 ENSG00000155393 HGNC:26087 HESX1 gene HESX1 Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Septooptic dysplasia, MIM# 182230;Growth hormone deficiency with pituitary anomalies, MIM#182230 Failure to thrive;HP:0001508; Growth delay;HP:0001510 14561704;26781211;11136712;16940453 False 3 100;0;0 1.76 True ENSG00000163666 ENSG00000163666 HGNC:4877 HMGA2 gene HMGA2 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 5, MIM# 618908;MONDO:0020795 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25809938;29453418;29655892;33482836 False 3 100;0;0 1.76 True ENSG00000149948 ENSG00000149948 HGNC:5009 HRAS gene HRAS Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, MIM# 218040 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16969868;16443854;21396583;16170316;16329078;16372351 False 3 100;0;0 1.76 True 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 Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747 Failure to thrive;HP:0001508; Growth delay;HP:0001510 8857020;15769976;14684690;31539878;28768959;34125705;22832530 False 3 100;0;0 1.76 True ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Insulin-like growth factor I, resistance to, MIM # 270450 Failure to thrive;HP:0001508; Growth delay;HP:0001510 14657428;22130793;23045302;26252249;17264177;31586944 False 3 100;0;0 1.76 True ENSG00000140443 ENSG00000140443 HGNC:5465 IGF2 gene IGF2 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Silver-Russell syndrome 3, MIM #616489 Failure to thrive;HP:0001508; Growth delay;HP:0001510 26154720;31544945 False 3 100;0;0 1.76 True ENSG00000167244 ENSG00000167244 HGNC:5466 IGFALS gene IGFALS Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Acid-labile subunit, deficiency of, MIM# 615961 Failure to thrive;HP:0001508; Growth delay;HP:0001510 14762184;21396577;34136918 False 3 100;0;0 1.76 True ENSG00000099769 ENSG00000099769 HGNC:5468 INSR gene INSR Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Leprechaunism, MIM# 246200;Rabson-Mendenhall syndrome, MIM# 262190 Failure to thrive;HP:0001508; Growth delay;HP:0001510 8105179;7815442;33995269;33224016;33048476;2121734;9449692 False 3 100;0;0 1.76 True ENSG00000171105 ENSG00000171105 HGNC:6091 INTS1 gene INTS1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 Failure to thrive;HP:0001508; Growth delay;HP:0001510 28542170;31428919;30622326 False 3 100;0;0 1.76 True ENSG00000164880 ENSG00000164880 HGNC:24555 KANSL1 gene KANSL1 Expert Review;Expert Review Green Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome (MIM#610443) Failure to thrive;HP:0001508; Growth delay;HP:0001510 22544363 False 3 100;0;0 1.76 True ENSG00000120071 ENSG00000120071 HGNC:24565 KDM3B gene KDM3B Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diets-Jongmans syndrome, MIM# 618846;Intellectual disability;short stature;deafness Failure to thrive;HP:0001508; Growth delay;HP:0001510 30929739 False 3 100;0;0 1.76 True ENSG00000120733 ENSG00000120733 HGNC:1337 KDM6A gene KDM6A Expert Review Green;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Kabuki syndrome 2, MIM# 300867 Failure to thrive;HP:0001508; Growth delay;HP:0001510 22197486;23076834;24633898;25972376 False 3 100;0;0 1.76 True ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2A gene KMT2A Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wiedemann-Steiner syndrome;OMIM #605130 Failure to thrive;HP:0001508; Growth delay;HP:0001510 22795537;25810209;29574747;33783954 False 3 100;0;0 1.76 True ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2D gene KMT2D Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, MIM# 147920;KMT2D-associated neurodevelopmental syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 31949313;32083401;21882399 False 3 100;0;0 1.76 True ENSG00000167548 ENSG00000167548 HGNC:7133 KRAS gene KRAS Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3, MIM# 609942;Cardiofaciocutaneous syndrome 2, MIM# 615278 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21396583;21797849;16474404;16474405;16773572;17056636 False 3 100;0;0 1.76 True 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 LARP7 gene LARP7 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Alazami syndrome, MIM# 615071;Microcephalic primordial dwarfism, Alazami type MONDO:0014031 Failure to thrive;HP:0001508; Growth delay;HP:0001510 22865833;21937992;30006060;33569879 False 3 100;0;0 1.76 True ENSG00000174720 ENSG00000174720 HGNC:24912 LHX3 gene LHX3 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3, MIM# 221750 Failure to thrive;HP:0001508; Growth delay;HP:0001510 10835633;16394081;17327381;18407919 False 3 100;0;0 1.76 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 4, MIM# 262700 Failure to thrive;HP:0001508; Growth delay;HP:0001510 11567216;17527005;18073311 False 3 100;0;0 1.76 True ENSG00000121454 ENSG00000121454 HGNC:21734 LIG1 gene LIG1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency;Lymphopaenia;Hypogammaglobulinaemia;Recurrent bacterial and viral infections;Growth retardation;Sun sensitivity, radiation sensitivity;Macrocytosis Failure to thrive;HP:0001508; Growth delay;HP:0001510 1581963;1351188;30395541 False 3 100;0;0 1.76 True ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593;microcephaly, growth retardation, immunodeficiency, developmental delay Failure to thrive;HP:0001508; Growth delay;HP:0001510 11779494;16088910;15333585;20133615 False 3 100;0;0 1.76 True ENSG00000174405 ENSG00000174405 HGNC:6601 LZTR1 gene LZTR1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 10;Noonan syndrome 2 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25795793;29469822;30368668;30481304;24362817 False 3 100;0;0 1.76 True ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, MIM# 615279 Failure to thrive;HP:0001508; Growth delay;HP:0001510 23321623;16439621;21396583;16825433;17551924;18042262;20301365 False 3 100;0;0 1.76 True 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;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4, MIM# 615280 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16439621;21396583;23379592;20358587;16439621;18042262 False 3 100;0;0 1.76 True 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 MAPK1 gene MAPK1 Expert Review;Expert Review Green Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 13, MIM#619087 Failure to thrive;HP:0001508; Growth delay;HP:0001510 32721402 False 3 100;0;0 1.76 True 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 MPLKIP gene MPLKIP Expert list;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy 4, nonphotosensitive, MIM# 234050;MONDO:0021013 Failure to thrive;HP:0001508; Growth delay;HP:0001510 15645389;16977596 False 3 100;0;0 1.76 True ENSG00000168303 ENSG00000168303 HGNC:16002 MRAS gene MRAS Expert Review;Expert Review Green Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11, MIM#618499 Failure to thrive;HP:0001508; Growth delay;HP:0001510 28289718;31173466;31108500;31173466 False 3 100;0;0 1.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000158186 ENSG00000158186 HGNC:7227 MSTO1 gene MSTO1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia, OMIM:617675 Failure to thrive;HP:0001508; Growth delay;HP:0001510 29339779;28554942;31604776;28544275;31130378 False 3 100;0;0 1.76 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTX2 gene MTX2 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia;growth retardation;arterial calcification;lipodystrophy Failure to thrive;HP:0001508; Growth delay;HP:0001510 32917887 False 3 100;0;0 1.76 True ENSG00000128654 ENSG00000128654 HGNC:7506 NBAS gene NBAS Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800 Failure to thrive;HP:0001508; Growth delay;HP:0001510 31761904;20577004;26286438 False 3 100;0;0 1.76 True ENSG00000151779 ENSG00000151779 HGNC:15625 NBN gene NBN Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM# 251260;MONDO:0009623 Failure to thrive;HP:0001508; Growth delay;HP:0001510 33488600;33082212 False 3 100;0;0 1.76 True ENSG00000104320 ENSG00000104320 HGNC:7652 NHEJ1 gene NHEJ1 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291;MONDO:0012650 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16439204;16439205 False 3 100;0;0 1.76 True ENSG00000187736 ENSG00000187736 HGNC:25737 NHLRC2 gene NHLRC2 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278 Failure to thrive;HP:0001508; Growth delay;HP:0001510 29423877;32435055 False 3 100;0;0 1.76 True ENSG00000196865 ENSG00000196865 HGNC:24731 NIPBL gene NIPBL Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1, MIM # 122470 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16604071;20358602;16236812;17661813 False 3 100;0;0 1.76 True ENSG00000164190 ENSG00000164190 HGNC:28862 NRAS gene NRAS Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6, MIM# 613224 Failure to thrive;HP:0001508; Growth delay;HP:0001510 19966803;19775298;26467218;28594414 False 3 100;0;0 1.76 True 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 Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2, MIM #612921 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21737058;19481195;23018678;19877176 False 3 100;0;0 1.76 True ENSG00000124006 ENSG00000124006 HGNC:29092 ORC1 gene ORC1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, MIM# 224690;MONDO:0009143 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21358632;22333897;25691413;26139588 False 3 100;0;0 1.76 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 2, MIM# 613800 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21358632;22333897;25691413;26139588 False 3 100;0;0 1.76 True ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 3, MIM# 613803 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21358632;21358631;33338304;22333897 False 3 100;0;0 1.76 True ENSG00000091651 ENSG00000091651 HGNC:17151 OTX2 gene OTX2 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 6, MIM# 613986;Microphthalmia, syndromic 5, MIM# 610125 Failure to thrive;HP:0001508; Growth delay;HP:0001510 18728160;33950863;15846561 False 3 100;0;0 1.76 True ENSG00000165588 ENSG00000165588 HGNC:8522 PALB2 gene PALB2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group N, MIM# 610832 Failure to thrive;HP:0001508; Growth delay;HP:0001510 17200672;17200671 False 3 100;0;0 1.76 True ENSG00000083093 ENSG00000083093 HGNC:26144 PAPPA2 gene PAPPA2 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Short stature, Dauber-Argente type, MIM#619489 Failure to thrive;HP:0001508; Growth delay;HP:0001510 26902202;34272725;32739295 False 3 100;0;0 1.76 True ENSG00000116183 ENSG00000116183 HGNC:14615 PCDHGC4 gene PCDHGC4 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 Failure to thrive;HP:0001508; Growth delay;HP:0001510 34244665 False 3 100;0;0 1.76 True ENSG00000242419 ENSG00000242419 HGNC:8717 PCNT gene PCNT Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, MIM# 210720;MONDO:0008872 Failure to thrive;HP:0001508; Growth delay;HP:0001510 18174396;12210304;30922925;33460028;32557621;32267100 False 3 100;0;0 1.76 True ENSG00000160299 ENSG00000160299 HGNC:16068 PIK3R1 gene PIK3R1 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome, OMIM # 269880 Failure to thrive;HP:0001508; Growth delay;HP:0001510 23810378;23810379;23810382 False 3 100;0;0 1.76 True ENSG00000145675 ENSG00000145675 HGNC:8979 PITX2 gene PITX2 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 1, MIM# 180500 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000164093 ENSG00000164093 HGNC:9005 PLAG1 gene PLAG1 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 4, MIM # 618907 Failure to thrive;HP:0001508; Growth delay;HP:0001510 28796236;33291420;32546215 False 3 100;0;0 1.76 True ENSG00000181690 ENSG00000181690 HGNC:9045 PLK4 gene PLK4 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Microcephaly and chorioretinopathy 2, MONDO:0014516;Microcephaly and chorioretinopathy, autosomal recessive, 2, #MIM:616171 Failure to thrive;HP:0001508; Growth delay;HP:0001510 27650967;25320347;25344692 False 3 100;0;0 1.76 True ENSG00000142731 ENSG00000142731 HGNC:11397 PNPLA6 gene PNPLA6 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Oliver-McFarlane syndrome, MIM# 275400;Laurence-Moon syndrome, MIM# 245800 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25480986;33818269;32758583;30097146 False 3 100;0;0 1.76 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLE gene POLE Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal FILS syndrome, MIM# 615139;IMAGE-I syndrome, MIM# 618336 Failure to thrive;HP:0001508; Growth delay;HP:0001510 30503519;23230001;25948378 False 3 100;0;0 1.76 True ENSG00000177084 ENSG00000177084 HGNC:9177 POU1F1 gene POU1F1 Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1 MIM# 613038;pituitary hypoplasia;severe growth failure;combined GH, PRL and TSH deficiency;distinct facial features (prominent forehead, mid-facial hypoplasia, depressed nasal bridge, deep-set eyes and a short nose with anteverted nostrils) Failure to thrive;HP:0001508; Growth delay;HP:0001510 1302000;1472057;9392392;15928241;7833912;12773133 False 3 100;0;0 1.76 True ENSG00000064835 ENSG00000064835 HGNC:9210 PPP1CB gene PPP1CB Expert Review Green;Genomics England PanelApp;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with loose anagen hair 2;OMIM # 617506 Failure to thrive;HP:0001508; Growth delay;HP:0001510 27264673;27681385;28211982;32476286;27868344 False 3 100;0;0 1.76 True ENSG00000213639 ENSG00000213639 HGNC:9282 PROP1 gene PROP1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2 MIM# 262600;Ateliotic dwarfism with hypogonadism;growth failure;short stature;failure to thrive;absent sexual development at puberty;GH, PRL, TSH, LH, and FSH deficiency;pituitary hypoplasia Failure to thrive;HP:0001508; Growth delay;HP:0001510 20301521;31090814 False 3 100;0;0 1.76 True ENSG00000175325 ENSG00000175325 HGNC:9455 PTPN11 gene PTPN11 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines);Noonan syndrome 1, MIM#163950 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16263833;17603483;17497712;12634870;11704759;18678287;15384080;15240615;12529711 False 3 100;0;0 1.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 PUF60 gene PUF60 Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Verheij syndrome, OMIM # 615583 Failure to thrive;HP:0001508; Growth delay;HP:0001510 19464398;24140112;28327570;27804958 False 3 100;0;0 1.76 True ENSG00000179950 ENSG00000179950 HGNC:17042 RAD21 gene RAD21 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, MIM # 614701 Failure to thrive;HP:0001508; Growth delay;HP:0001510 22633399;32193685;27882533;30716475;30125677;24378232 False 3 100;0;0 1.76 True ENSG00000164754 ENSG00000164754 HGNC:9811 RAD50 gene RAD50 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome-like disorder, MIM# 613078;MONDO:0013118 Failure to thrive;HP:0001508; Growth delay;HP:0001510 19409520;32212377;33378670 False 3 100;0;0 1.76 True ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51 gene RAD51 Expert Review;Expert Review Green Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi anaemia, complementation group R, MIM# 617244 Failure to thrive;HP:0001508; Growth delay;HP:0001510 26253028;26681308;30907510 False 3 100;0;0 1.76 True ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group O, MIM# 613390 Failure to thrive;HP:0001508; Growth delay;HP:0001510 20400963;29278735 False 3 100;0;0 1.76 True ENSG00000108384 ENSG00000108384 HGNC:9820 RAF1 gene RAF1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 5, MIM# 611553 Failure to thrive;HP:0001508; Growth delay;HP:0001510 17603483;17603482;31145547;31030682;29271604 False 3 100;0;0 1.76 True 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;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, MIM# 268400;RAPADILINO syndrome, MIM# 266280;Baller-Gerold syndrome, MIM# 218600 Failure to thrive;HP:0001508; Growth delay;HP:0001510 10319867;12952869;15964893 False 3 100;0;0 1.76 True ENSG00000160957 ENSG00000160957 HGNC:9949 RIT1 gene RIT1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8, MIM# 615355 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24939608;25124994;23791108;27101134 False 3 100;0;0 1.76 True 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 RNF113A gene RNF113A Expert Review;Expert Review Green Growth failure X-LINKED: hemizygous mutation in males, biallelic mutations in females Trichothiodystrophy 5, nonphotosensitive;OMIM #300953 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25612912;31793730;31880405 False 3 100;0;0 1.76 True ENSG00000125352 ENSG00000125352 HGNC:12974 RNF168 gene RNF168 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal RIDDLE syndrome MIM# 611943;Radiosensitivity;Immune Deficiency;Dysmorphic Features;Learning difficulties;Low IgG or IgA;Short stature;mild defect of motor control to ataxia;normal intelligence to learning difficulties;mild facial dysmorphism to microcephaly Failure to thrive;HP:0001508; Growth delay;HP:0001510 19203578;21394101;29255463;21552324 False 3 100;0;0 1.76 True ENSG00000163961 ENSG00000163961 HGNC:26661 RNPC3 gene RNPC3 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency;Intellectual disability Failure to thrive;HP:0001508; Growth delay;HP:0001510 32462814;29866761;24480542;33650182 False 3 100;0;0 1.76 True ENSG00000185946 ENSG00000185946 HGNC:18666 RNU4ATAC gene RNU4ATAC Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710);Roifman syndrome (MIM# 616651);Lowry-Wood syndrome, MIM# 226960 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21474760;23794361;26522830;30455926;29265708;12605445 False 3 100;0;0 1.76 True ENSG00000264229 ENSG00000264229 HGNC:34016 ROR2 gene ROR2 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive MIM# 268310;hypertelorism;short stature;mesomelic shortening of the limbs;hypoplastic genitalia;rib/vertebral anomalies;abnormal morphogenesis of the face Failure to thrive;HP:0001508; Growth delay;HP:0001510 10932186;10932187;10986040;19461659 False 3 100;0;0 1.76 True ENSG00000169071 ENSG00000169071 HGNC:10257 RPL10 gene RPL10 Expert Review Green;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked, syndromic, 35 MIM# 300998;severe growth retardation;intrauterine growth restriction;short stature;dysmorphic facial features (prognathism, dental crowding, thin upper lip);microcephaly;seizures;hypotonia;genitourinary abnormalities;cerebellar hypoplasia Failure to thrive;HP:0001508; Growth delay;HP:0001510 25316788;25846674;26290468 False 3 100;0;0 1.76 True ENSG00000147403 ENSG00000147403 HGNC:10298 RPS6KA3 gene RPS6KA3 Expert Review Green;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry syndrome MIM# 303600;Intellectual disability;short stature;delayed bone age;hearing deficit;hypotonia;tapering fingers;abnormal facies (hypertelorism, anteverted nares, prominent frontal region) Failure to thrive;HP:0001508; Growth delay;HP:0001510 6879200 False 3 100;0;0 1.76 True ENSG00000177189 ENSG00000177189 HGNC:10432 RRAS2 gene RRAS2 Expert Review;Expert Review Green Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 12, MIM #618624 Failure to thrive;HP:0001508; Growth delay;HP:0001510 31130282 False 3 100;0;0 1.76 True 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 SAMD9 gene SAMD9 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome, 617053 Failure to thrive;HP:0001508; Growth delay;HP:0001510 27182967 False 3 100;0;0 1.76 True Other - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SBDS gene SBDS Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal "Shwachman-Diamond syndrome 1, MIM# 260400" Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000126524 ENSG00000126524 HGNC:19440 SCUBE3 gene SCUBE3 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184;short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953 Failure to thrive;HP:0001508; Growth delay;HP:0001510 33308444 False 3 100;0;0 1.76 True ENSG00000146197 ENSG00000146197 HGNC:13655 SHOC2 gene SHOC2 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like with loose anagen hair 1, MIM# 607721 Failure to thrive;HP:0001508; Growth delay;HP:0001510 23918763;19684605;22528146 False 3 100;0;0 1.76 True 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 SHOX gene SHOX Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Langer mesomelic dysplasia, MIM# 249700;Leri-Weill dyschondrosteosis, MIM# 127300 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000185960 ENSG00000185960 HGNC:10853 SLF2 gene SLF2 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 1, MIM# 620184 Failure to thrive;HP:0001508; Growth delay;HP:0001510 36333305 False 3 100;0;0 1.76 True ENSG00000119906 ENSG00000119906 HGNC:17814 SLX4 gene SLX4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P, MIM# 613951 Failure to thrive;HP:0001508; Growth delay;HP:0001510 21240275;21240277 False 3 100;0;0 1.76 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCAL1 gene SMARCAL1 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Schimke immune-osseous dysplasia MIM# 242900;T cell deficiency;Short stature;IUGR;spondyloepiphyseal dysplasia;growth retardation;renal dysfunction;lymphocytopaenia;nephropathy;bacterial/viral/fungal infections;may present as SCID;bone marrow failure Failure to thrive;HP:0001508; Growth delay;HP:0001510 20301550;17089404;20036229 False 3 100;0;0 1.76 True ENSG00000138375 ENSG00000138375 HGNC:11102 SMC1A gene SMC1A Expert Review Green;Genomics England PanelApp Growth failure 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, MONDO:0010370 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16604071;20358602;19842212;24124034 False 3 100;0;0 1.76 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3, MIM# 610759 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25125236;25655089 False 3 100;0;0 1.76 True ENSG00000108055 ENSG00000108055 HGNC:2468 SMC5 gene SMC5 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Atelis syndrome 2, MIM# 620185 Failure to thrive;HP:0001508; Growth delay;HP:0001510 36333305 False 3 100;0;0 1.76 True ENSG00000198887 ENSG00000198887 HGNC:20465 SOS1 gene SOS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4, MIM# 610733 Failure to thrive;HP:0001508; Growth delay;HP:0001510 17143285;17586837;17143282;19438935 False 3 100;0;0 1.76 True 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;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 9, MIM# 616559 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25795793;26173643;32788663 False 3 100;0;0 1.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SOX2 gene SOX2 Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Microphthalmia, syndromic 3, MIM# 206900 Failure to thrive;HP:0001508; Growth delay;HP:0001510 15812812;16543359;16932809 False 3 100;0;0 1.76 True ENSG00000181449 ENSG00000181449 HGNC:11195 SPRED2 gene SPRED2 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Noonan syndrome 14, MIM# 619745 Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 34626534 False 3 100;0;0 1.76 True ENSG00000198369 ENSG00000198369 HGNC:17722 SPRTN gene SPRTN Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Ruijs-Aalfs syndrome, MIM# 616200;MONDO:0014527 Failure to thrive;HP:0001508; Growth delay;HP:0001510 25261934 False 3 100;0;0 1.76 True ENSG00000010072 ENSG00000010072 HGNC:25356 SRCAP gene SRCAP Expert Review Green;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Floating-Harbor syndrome, OMIM # 136140 Failure to thrive;HP:0001508; Growth delay;HP:0001510 22265015;22965468;22965468 False 3 100;0;0 1.76 True ENSG00000080603 ENSG00000080603 HGNC:16974 STAT3 gene STAT3 Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952;Lymphoproliferation;solid organ autoimmunity;growth failure;recurrent infections;short stature;IUGR;eczema;delayed puberty;dental abnormalities;autoimmune interstitial lung disease;juvenile-onset arthritis;primary hypothyroidism Failure to thrive;HP:0001508; Growth delay;HP:0001510 25349174;25038750;25359994 False 3 100;0;0 1.76 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B Expert Review Green;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590;Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985 Failure to thrive;HP:0001508; Growth delay;HP:0001510 13679528;15827093;16787985;17389811;29844444 False 3 100;0;0 1.76 True ENSG00000173757 ENSG00000173757 HGNC:11367 STT3A gene STT3A Expert Review Green;Literature Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, AR, OMIM #615596;Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 34653363;23842455;30701557;28424003 False 3 100;0;0 1.76 True Other ENSG00000134910 ENSG00000134910 HGNC:6172 TBCE gene TBCE Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Kenny-Caffey syndrome, type 1, MIM# 244460;Hypoparathyroidism-retardation-dysmorphism syndrome, MIM# 241410, Sanjad-Sakati syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 12389028;26029652;33010201;30638765 False 3 100;0;0 1.76 True ENSG00000116957 ENSG00000116957 HGNC:11582 THUMPD1 gene THUMPD1 Expert Review Green;Other Growth failure BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254, THUMPD1-related Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000066654 ENSG00000066654 HGNC:23807 TOP3A gene TOP3A Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097 Failure to thrive;HP:0001508; Growth delay;HP:0001510 30057030;33631320 False 3 100;0;0 1.76 True ENSG00000177302 ENSG00000177302 HGNC:11992 TRAIP gene TRAIP Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 9, MIM# 616777 Failure to thrive;HP:0001508; Growth delay;HP:0001510 26595769 False 3 100;0;0 1.76 True ENSG00000183763 ENSG00000183763 HGNC:30764 TRIM37 gene TRIM37 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Mulibery nanism, MIM#253250 Failure to thrive;HP:0001508; Growth delay;HP:0001510 10888877;12754710;15108285;14757854;27044324 False 3 100;0;0 1.76 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP13 gene TRIP13 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Mosaic variegated aneuploidy syndrome 3, MIM# 617598 Failure to thrive;HP:0001508; Growth delay;HP:0001510 28553959 False 3 100;0;0 1.76 True ENSG00000071539 ENSG00000071539 HGNC:12307 TRMT10A gene TRMT10A Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033;MONDO:0000208 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24204302;25053765;33448213;33067246;26535115;26526202;26297882 False 3 100;0;0 1.76 True ENSG00000145331 ENSG00000145331 HGNC:28403 TRPS1 gene TRPS1 Expert Review Green;Literature Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Trichorhinophalangeal syndrome, type I, OMIM # 190350;Trichorhinophalangeal syndrome, type III, OMIM # 190351 Failure to thrive;HP:0001508; Growth delay;HP:0001510 11112658;10615131 False 3 100;0;0 1.76 True ENSG00000104447 ENSG00000104447 HGNC:12340 UBE2T gene UBE2T Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T, MIM# 616435 Failure to thrive;HP:0001508; Growth delay;HP:0001510 26046368;32646888 False 3 100;0;0 1.76 True ENSG00000077152 ENSG00000077152 HGNC:25009 UBR1 gene UBR1 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal "Johanson-Blizzard syndrome, MIM# 243800" Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 3 100;0;0 1.76 True ENSG00000159459 ENSG00000159459 HGNC:16808 WBP4 gene WBP4 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, WBP4-related Failure to thrive;HP:0001508; Growth delay;HP:0001510 PMID: 37425688 False 3 100;0;0 1.76 True ENSG00000120688 ENSG00000120688 HGNC:12739 WRN gene WRN Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Werner syndrome, MIM# 277700;MONDO:0010196 Failure to thrive;HP:0001508; Growth delay;HP:0001510 28476236;8602509;8968742;9012406 False 3 100;0;0 1.76 True ENSG00000165392 ENSG00000165392 HGNC:12791 XRCC4 gene XRCC4 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Short stature, microcephaly, and endocrine dysfunction, MIM# 616541;MONDO:0014686 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24389050;25728776;25872942 False 3 100;0;0 1.76 True ENSG00000152422 ENSG00000152422 HGNC:12831 ZBTB24 gene ZBTB24 Expert Review;Expert Review Green Growth failure BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069;MONDO:0013553" Failure to thrive;HP:0001508; Growth delay;HP:0001510 21596365;21906047;23486536 False 3 100;0;0 1.76 True ENSG00000112365 ENSG00000112365 HGNC:21143 ZFP57 gene ZFP57 Expert Review Green;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal 1, MIM# 601410 Failure to thrive;HP:0001508; Growth delay;HP:0001510 18622393 False 3 100;0;0 1.76 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF699 gene ZNF699 Expert Review Green;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal DEGCAGS syndrome, MIM# 619488 Failure to thrive;HP:0001508; Growth delay;HP:0001510 33875846 False 3 100;0;0 1.76 True ENSG00000196110 ENSG00000196110 HGNC:24750 CENPJ gene CENPJ Expert Review Amber;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 4, MIM# 613676 Failure to thrive;HP:0001508; Growth delay;HP:0001510 20522431;23166506 False 2 0;100;0 1.76 True ENSG00000151849 ENSG00000151849 HGNC:17272 DCAF15 gene DCAF15 Expert Review Amber;Other Growth failure BIALLELIC, autosomal or pseudoautosomal Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 2 0;100;0 1.76 True ENSG00000132017 ENSG00000132017 HGNC:25095 GHSR gene GHSR Expert Review Amber;Genomics England PanelApp Growth failure BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated partial, MIM# 615925 Failure to thrive;HP:0001508; Growth delay;HP:0001510 16511605;25557026;19789204 False 2 0;100;0 1.76 True ENSG00000121853 ENSG00000121853 HGNC:4267 NLRP2 gene NLRP2 Expert Review Amber;Genomics England PanelApp Growth failure Other Maternal effect gene- causing phenotypes that include IUGR Failure to thrive;HP:0001508; Growth delay;HP:0001510 30877238;33090377;29574422;26323243;19300480 False 2 0;100;0 1.76 True ENSG00000022556 ENSG00000022556 HGNC:22948 NLRP5 gene NLRP5 Expert Review Amber;Genomics England PanelApp Growth failure Other Short stature;Failure to thrive;multilocus imprinting disturbances;IUGR Failure to thrive;HP:0001508; Growth delay;HP:0001510 26323243;29574422 False 2 0;100;0 1.76 True ENSG00000171487 ENSG00000171487 HGNC:21269 NLRP7 gene NLRP7 Expert Review Amber;Genomics England PanelApp Growth failure Other IUGR Failure to thrive;HP:0001508; Growth delay;HP:0001510 28561018 False 2 0;100;0 1.76 True ENSG00000167634 ENSG00000167634 HGNC:22947 PADI6 gene PADI6 Expert Review Amber;Genomics England PanelApp Growth failure Other IUGR Failure to thrive;HP:0001508; Growth delay;HP:0001510 33221824;32928291;29574422 False 2 0;100;0 1.76 True ENSG00000256049 ENSG00000276747 HGNC:20449 RAP1B gene RAP1B Expert Review Amber;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Failure to thrive;HP:0001508; Growth delay;HP:0001510 26280580;32627184 False 2 0;100;0 1.76 True ENSG00000127314 ENSG00000127314 HGNC:9857 RBBP8 gene RBBP8 Expert Review Amber;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel syndrome 2, MIM# 606744 Failure to thrive;HP:0001508; Growth delay;HP:0001510 24389050;21998596 False 2 0;100;0 1.76 True ENSG00000101773 ENSG00000101773 HGNC:9891 TKT gene TKT Expert list;Expert Review Amber Growth failure BIALLELIC, autosomal or pseudoautosomal Short stature, developmental delay, and congenital heart defects;OMIM #617044 Failure to thrive;HP:0001508; Growth delay;HP:0001510 27259054 False 2 0;100;0 1.76 True ENSG00000163931 ENSG00000163931 HGNC:11834 ZNF668 gene ZNF668 Expert Review Amber;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194 Failure to thrive;HP:0001508; Growth delay;HP:0001510 34313816;26633546 False 2 0;100;0 1.76 True ENSG00000167394 ENSG00000167394 HGNC:25821 ATRIP gene ATRIP Expert Review Red;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Seckel-like syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 23144622 False 1 0;0;100 1.76 True ENSG00000164053 ENSG00000164053 HGNC:33499 CDC6 gene CDC6 Expert Review Red;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 5 (MIM#613805) Failure to thrive;HP:0001508; Growth delay;HP:0001510 21358632 False 1 0;0;100 1.76 True ENSG00000094804 ENSG00000094804 HGNC:1744 FANCM gene FANCM Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services Growth failure BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia Failure to thrive;HP:0001508; Growth delay;HP:0001510 16116422;25078778;19423727 False 1 0;0;100 1.76 True ENSG00000187790 ENSG00000187790 HGNC:23168 GINS2 gene GINS2 Expert Review Red;Literature Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome with craniosynostosis Failure to thrive;HP:0001508; Growth delay;HP:0001510 34353863 False 1 0;0;100 1.76 True ENSG00000131153 ENSG00000131153 HGNC:24575 GPR161 gene GPR161 Expert Review Red;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Pituitary stalk interruption syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 25322266 False 1 0;0;100 1.76 True ENSG00000143147 ENSG00000143147 HGNC:23694 H19 gene H19 Expert Review Red;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Silver-Russell syndrome, MIM# 180860 Failure to thrive;HP:0001508; Growth delay;HP:0001510 False 1 0;0;100 1.76 True ENSG00000130600 ENSG00000130600 HGNC:4713 IFT172 gene IFT172 Expert Review Red;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal GH deficiency, retinopathy, metaphyseal dysplasia Failure to thrive;HP:0001508; Growth delay;HP:0001510 25664603 False 1 0;0;100 1.76 True ENSG00000138002 ENSG00000138002 HGNC:30391 KHDC3L gene KHDC3L Expert Review Red;Genomics England PanelApp Growth failure Other Silver-Russell syndrome Failure to thrive;HP:0001508; Growth delay;HP:0001510 29574422 False 1 0;0;100 1.76 True ENSG00000203908 ENSG00000203908 HGNC:33699 MCM5 gene MCM5 Expert Review Red;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 8 (MIM#617564) Failure to thrive;HP:0001508; Growth delay;HP:0001510 28198391 False 1 0;0;100 1.76 True ENSG00000100297 ENSG00000100297 HGNC:6948 PROKR2 gene PROKR2 Expert Review Red;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200;Kallmann syndrome (KS);normosmic idiopathic hypogonadotropic hypogonadism (nIHH);Anosmia;GnRH deficiency;cleft lip and palate;renal agenesis;Hypogonadotropic hypogonadism;low testosterone/ estradiol;Absent/ partial Puberty;Hearing loss Failure to thrive;HP:0001508; Growth delay;HP:0001510 22319038;18559922;29161432;17054399 False 1 0;0;100 1.76 True ENSG00000101292 ENSG00000101292 HGNC:15836 SHOX2 gene SHOX2 Expert Review Red;Genomics England PanelApp Growth failure MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sinus Node Dysfunction;Atrial Fibrillation Failure to thrive;HP:0001508; Growth delay;HP:0001510 30443179;16537395;16537395 False 1 0;0;100 1.76 True ENSG00000168779 ENSG00000168779 HGNC:10854 SLC30A7 gene SLC30A7 Expert Review;Expert Review Red Growth failure BIALLELIC, autosomal or pseudoautosomal Ziegler-Huang syndrome, MIM# 620501 Failure to thrive;HP:0001508; Growth delay;HP:0001510 36821639 False 1 0;0;100 1.76 True ENSG00000162695 ENSG00000162695 HGNC:19306 SOX3 gene SOX3 Expert Review Red;Genomics England PanelApp Growth failure X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123;Panhypopituitarism, X-linked, MIM#312000 Failure to thrive;HP:0001508; Growth delay;HP:0001510 15800844;29175558;30125608;12428212 False 1 0;0;100 1.76 True Other - please provide details in the comments ENSG00000134595 ENSG00000134595 HGNC:11199 ZPR1 gene ZPR1 Expert Review Red;Genomics England PanelApp Growth failure BIALLELIC, autosomal or pseudoautosomal Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321 Failure to thrive;HP:0001508; Growth delay;HP:0001510 29851065 False 1 0;0;100 1.76 True ENSG00000109917 ENSG00000109917 HGNC:13051