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 ABL1 gene ABL1 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Congenital heart defects and skeletal malformations syndrome 617602" 28288113 False 3 100;0;0 7.41 False Other ENSG00000097007 ENSG00000097007 HGNC:76 ACE gene ACE Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;Renal Tubular Dysgenesis 16116425;22095942;30058238;30071301 False 3 0;0;0 7.41 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTC1 gene ACTC1 Expert Review Green;South West GLH Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 5;Cardiomyopathy, hypertrophic, 11;Cardiomyopathy, dilated, 1R;Left ventricular noncompaction 4 False 3 100;0;0 7.41 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTG2 gene ACTG2 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT;Megacystis-microcolon intestinal hypoperistalsis syndrome;Visceral myopathy, 155310;Berdon syndrome 25998219;26647307;31070878;24676022 False 3 0;0;0 7.41 False ENSG00000163017 ENSG00000163017 HGNC:145 ACVR2B gene ACVR2B Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 9916847 False 3 100;0;0 7.41 False ENSG00000114739 ENSG00000114739 HGNC:174 ADAMTS19 gene ADAMTS19 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Non-syndromic heart valve disease;heart valve disease, MONDO:0002869 31844321;32323311 False 3 50;50;0 7.41 False ENSG00000145808 ENSG00000145808 HGNC:17111 AGT gene AGT Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430;CAKUT 16116425;15017542 False 3 0;0;0 7.41 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;Hypertension, essential, 145500;Renal Tubular Dysgenesis;Renal tubular dysgenesis, 267430 False 3 0;0;0 7.41 False ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females CAKUT;Kallman syndrome;Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 1518845;16423815 False 3 0;0;0 7.41 False ENSG00000011201 ENSG00000011201 HGNC:6211 ASCC1 gene ASCC1 DD-Gene2Phenotype;Expert Review Green Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures;spinal muscular atrophy;arthrogryposis;fetal akinesia;hypotonia;contractures 26924529;30327447;28749478 False 3 50;50;0 7.41 False ENSG00000138303 ENSG00000138303 HGNC:24268 CACHD1 gene CACHD1 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal syndromic complex neurodevelopmental disorder, MONDO:0800439 38158856 False 3 100;0;0 7.41 False ENSG00000158966 ENSG00000158966 HGNC:29314 CDH2 gene CDH2 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929;Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 31585109;31650526 False 3 100;0;0 7.41 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDX1 gene CDX1 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation 23329892;27042391 False 3 0;0;0 7.41 False ENSG00000113722 ENSG00000113722 HGNC:1805 CFAP53 gene CFAP53 Expert Review Green;South West GLH Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive False 3 100;0;0 7.41 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Heterotaxy, visceral, 2, autosomal 605376" 11062482;11799476 False 3 100;0;0 7.41 False ENSG00000136698 ENSG00000136698 HGNC:18292 CHRNA3 gene CHRNA3 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;dysautonomia;Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 31708116 False 3 0;0;0 7.41 False ENSG00000080644 ENSG00000080644 HGNC:1957 CTU2 gene CTU2 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 26633546;27480277;31301155 False 3 100;0;0 7.41 False ENSG00000174177 ENSG00000174177 HGNC:28005 ERCC1 gene ERCC1 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 4, OMIM:610758;hepatorenal syndrome, MONDO:0001382 40684071 False 3 100;0;0 7.41 False ENSG00000012061 ENSG00000012061 HGNC:3433 FOXI3 gene FOXI3 Expert Review;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bilateral Microtia;Congenital aural atresia 36260083;25655429;18787161;24650709 False 3 100;0;0 7.41 False ENSG00000214336 ENSG00000214336 HGNC:35123 FOXL2 gene FOXL2 Expert Review Green;NHS GMS;Other Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 33;67;0 7.41 False ENSG00000183770 ENSG00000183770 HGNC:1092 FOXP4 gene FOXP4 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder;multiple congenital abnormalities 33110267 False 3 67;33;0 7.41 False ENSG00000137166 ENSG00000137166 HGNC:20842 GATA3 gene GATA3 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT;Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255;Hypoparathyroidism, Sensorineural Deafness, and Renal Disease False 3 0;0;0 7.41 False ENSG00000107485 ENSG00000107485 HGNC:4172 GDF1 gene GDF1 Expert Review Green;South West GLH Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 6, OMIM:613854;Right atrial isomerism (Ivemark), OMIM:208530 False 3 0;100;0 7.41 False ENSG00000130283 ENSG00000130283 HGNC:4214 GPKOW gene GPKOW Expert Review Green;NHS GMS;PAGE Additional Gene List Paediatric disorders - additional genes Developmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) microcephaly with intrauterine growth restriction 28612833;40221893 False 3 75;25;0 7.41 False ENSG00000068394 ENSG00000068394 HGNC:30677 GREB1L gene GREB1L Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 80 OMIM:619274;deafness, autosomal dominant 80, MONDO:0030998;Renal hypodysplasia/aplasia 3, OMIM:617805;Renal agenesis, MONDO:0018470 29100091;29220675;29261186;29955957 False 3 0;0;0 7.41 False ENSG00000141449 ENSG00000141449 HGNC:31042 HMGA2 gene HMGA2 Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 5, OMIM:618908 25809938;28796236;29453418;29655892 False 3 100;0;0 7.41 False ENSG00000149948 ENSG00000149948 HGNC:5009 HYAL2 gene HYAL2 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063 28081210;23172227;26515055 False 3 0;100;0 7.41 False ENSG00000068001 ENSG00000068001 HGNC:5321 IARS gene IARS Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 27426735;29903433 False 3 0;0;0 7.41 False ENSG00000196305 ENSG00000196305 HGNC:5330 IER3IP1 gene IER3IP1 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 3 0;0;0 7.41 False ENSG00000134049 ENSG00000134049 HGNC:18550 IGFALS gene IGFALS Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders 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 3 100;0;0 7.41 False ENSG00000099769 ENSG00000099769 HGNC:5468 ISL1 gene ISL1 ClinGen;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital heart disease, MONDO:0005453 25077177;30390123;31484864;32820510;34260301 False 3 100;0;0 7.41 False ENSG00000016082 ENSG00000016082 HGNC:6132 ITGA8 gene ITGA8 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;Renal hypodysplasia/aplasia 1, 191830 False 3 0;0;0 7.41 False ENSG00000077943 ENSG00000077943 HGNC:6144 LRIG2 gene LRIG2 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;Urofacial syndrome 2, 615112;Congenital bladder disease: dyssynergic, high pressure bladder.;Urofacial syndrome 23313374 False 3 0;0;0 7.41 False ENSG00000198799 ENSG00000198799 HGNC:20889 MC4R gene MC4R Expert Review;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Obesity (BMIQ20), OMIM:618406;{Obesity, resistence to (BMIQ20)}, OMIM:618306 False 3 100;0;0 7.41 False ENSG00000166603 ENSG00000166603 HGNC:6932 MYH11 gene MYH11 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708 31944481;29575632;31427716;25407000 False 3 100;0;0 7.41 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYH7 gene MYH7 Expert Review Green;South West GLH Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050;Scapuloperoneal syndrome, myopathic type, OMIM:181430;MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409;Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647;Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Myopathy, myosin storage, autosomal dominant, OMIM:608358;Myopathy, myosin storage, autosomal dominant, MONDO:0012018;Left ventricular noncompaction 5, OMIM:613426 False 3 100;0;0 7.41 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYOCD gene MYOCD Expert Review;Expert Review Green Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder, congenital, OMIM:618719;Megabladder, congenital, MONDO:0032879 31513549 False 3 0;100;0 7.41 False ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert list;Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3 618845 31883644 False 3 0;100;0 7.41 False ENSG00000172890 ENSG00000172890 HGNC:29832 NHLRC2 gene NHLRC2 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal FINCA syndrome OMIM:618278 29423877;32435055 False 3 100;0;0 7.41 False ENSG00000196865 ENSG00000196865 HGNC:24731 NOTCH3 gene NOTCH3 Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lateral meningocele syndrome, OMIM:130720 25394726 False 3 100;0;0 7.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000074181 ENSG00000074181 HGNC:7883 OTUD5 gene OTUD5 Expert Review;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 33131077;33523931 False 3 100;0;0 7.41 False ENSG00000068308 ENSG00000068308 HGNC:25402 PAPPA2 gene PAPPA2 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Short stature, Dauber-Argente type, OMIM:619489 26902202;33875846;34272725 False 3 100;0;0 7.41 False ENSG00000116183 ENSG00000116183 HGNC:14615 PIGQ gene PIGQ Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 32588908;24463883;25558065;31148362 False 3 100;0;0 7.41 False ENSG00000007541 ENSG00000007541 HGNC:14135 PLAG1 gene PLAG1 Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Silver-Russell syndrome 4, OMIM:618907 28796236 False 3 100;0;0 7.41 False ENSG00000181690 ENSG00000181690 HGNC:9045 PLD1 gene PLD1 Expert Review Green;NHS GMS;South West GLH Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiac valvular dysplasia 1, OMIM:212093 27799408;33142350;33645542;35380090;36923242;37770978;38171566;39553471;39681445 False 3 50;50;0 7.41 False ENSG00000075651 ENSG00000075651 HGNC:9067 PLVAP gene PLVAP Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 29875123;29661969;26207260;31215290 False 3 100;0;0 7.41 False ENSG00000130300 ENSG00000130300 HGNC:13635 PLXND1 gene PLXND1 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Truncus arteriosus, HP:0001660 35396997 False 3 100;0;0 7.41 False ENSG00000004399 ENSG00000004399 HGNC:9107 RBFOX2 gene RBFOX2 ClinGen;Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, MONDO:0005453;hypoplastic left heart syndrome, MONDO:0004933 26785492;25205790;28991257;35137168;37165897 False 3 100;0;0 7.41 False ENSG00000100320 ENSG00000100320 HGNC:9906 REN gene REN Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal CAKUT;[Hyperproreninemia];Hyperuricemic nephropathy, familial juvenile 2, 613092;Renal tubular dysgenesis, 267430 31736371 False 3 0;0;0 7.41 False ENSG00000143839 ENSG00000143839 HGNC:9958 RINT1 gene RINT1 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 3 OMIM:618641;infantile liver failure syndrome 3 MONDO:0032844 31204009 False 3 100;0;0 7.41 False ENSG00000135249 ENSG00000135249 HGNC:21876 SIX2 gene SIX2 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted six2-related frontonasal dysplasia, MONDO:0044628 27383657;29315086;26581443 False 3 100;0;0 7.41 False ENSG00000170577 ENSG00000170577 HGNC:10888 SOX11 gene SOX11 Expert list;Expert Review Green Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27;Coffin-Siris syndrome 9, 615866 False 3 0;0;0 7.41 False ENSG00000176887 ENSG00000176887 HGNC:11191 STN1 gene STN1 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 27432940;32627942 False 3 100;0;0 7.41 False ENSG00000107960 ENSG00000107960 HGNC:26200 TAB2 gene TAB2 Expert Review Green;London South GLH;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, OMIM:614980 28464518;29700987;32183715;34456334;34990405;34741306;36000780;37153890 False 3 50;25;25 7.41 False ENSG00000055208 ENSG00000055208 HGNC:17075 TBX18 gene TBX18 Expert Review Green;Other Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT;Congenital anomalies of kidney and urinary tract 2, 143400 26235987 False 3 0;0;0 7.41 False ENSG00000112837 ENSG00000112837 HGNC:11595 TMEM260 gene TMEM260 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, OMIM:617478;Structural heart defects and renal anomalies syndrome, MONDO:0044321 28318500;34612517 False 3 60;40;0 7.41 False ENSG00000070269 ENSG00000070269 HGNC:20185 TOR1AIP1 gene TOR1AIP1 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 24856141;25425325;27342937;30723199;31299614;32055997;33215087;34164833 False 3 100;0;0 7.41 False ENSG00000143337 ENSG00000143337 HGNC:29456 TRAP1 gene TRAP1 Expert Review Green Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;VACTERL PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 7.41 False ENSG00000126602 ENSG00000126602 HGNC:16264 TSPYL1 gene TSPYL1 Expert Review Green;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome OMIM:608800;sudden infant death-dysgenesis of the testes syndrome MONDO:0012124 False 3 100;0;0 7.41 False ENSG00000189241 ENSG00000189241 HGNC:12382 TTN gene TTN DD-Gene2Phenotype;Expert Review Green Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 29575618;17444505;29691892;28040389 False 3 0;100;0 7.41 False ENSG00000155657 ENSG00000155657 HGNC:12403 WBP11 gene WBP11 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 7.41 False ENSG00000084463 ENSG00000084463 HGNC:16461 ZNRF3 gene ZNRF3 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted complex neurodevelopmental disorder, MONDO:0100038;congenital heart disease, MONDO:0005453 39168120 False 3 100;0;0 7.41 False ENSG00000183579 ENSG00000183579 HGNC:18126 CHAF1A gene CHAF1A Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculo-auriculo-vertebral spectrum 39333427 False 2 0;100;0 7.41 False ENSG00000167670 ENSG00000167670 HGNC:1910 COL5A1 gene COL5A1 Expert Review;Expert Review Amber Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ehlers-Danlos syndrome, classic type, 1, OMIM:130000;Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567 21611149;20847697 False 2 0;100;0 7.41 False ENSG00000130635 ENSG00000130635 HGNC:2209 DDR2 gene DDR2 Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Warburg-Cinotti syndrome, OMIM:618175 30449416 False 2 100;0;0 7.41 False ENSG00000162733 ENSG00000162733 HGNC:2731 EIF3A gene EIF3A Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic disease, MONDO:0002254 41033306 False 2 100;0;0 7.41 False ENSG00000107581 ENSG00000107581 HGNC:3271 EIF3B gene EIF3B Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic disease, MONDO:0002254 41033306 False 2 100;0;0 7.41 False ENSG00000106263 ENSG00000106263 HGNC:3280 FGF5 gene FGF5 Expert Review Amber;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Hypertrichosis;long eyelashes PMID: 24989505 False 2 50;50;0 7.41 False ENSG00000138675 ENSG00000138675 HGNC:3683 KCTD15 gene KCTD15 Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontonasal dysplasia, MONDO:0016643 38296633 False 2 0;100;0 7.41 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000153885 ENSG00000153885 HGNC:23297 SENP7 gene SENP7 Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal arthrogryposis multiplex congenita, MONDO:0015168;Recurrent infections, HP:0002719 37460201;38972567;39763084 False 2 100;0;0 7.41 False ENSG00000138468 ENSG00000138468 HGNC:30402 SPRTN gene SPRTN Expert Review Amber;Literature;NHS GMS Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ruijs-Aalfs syndrome, OMIM:616200;progeroid features-hepatocellular carcinoma predisposition syndrome, MONDO:0014527 12503110;25261934;25501849 False 2 100;0;0 7.41 False ENSG00000010072 ENSG00000010072 HGNC:25356 WNT9B gene WNT9B Expert Review Amber;Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia 34145744 False 2 0;100;0 7.41 False ENSG00000158955 ENSG00000158955 HGNC:12779 CITED2 gene CITED2 South West GLH Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 8;Ventricular septal defect 2 False 1 0;0;100 7.41 False ENSG00000164442 ENSG00000164442 HGNC:1987 CRELD1 gene CRELD1 South West GLH Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrioventricular septal defect, partial, with heterotaxy syndrome;Atrioventricular septal defect, susceptibility to, 2 False 1 0;0;100 7.41 False ENSG00000163703 ENSG00000163703 HGNC:14630 DET1 gene DET1 Literature Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal neurological defects and lethality 39937864 False 1 0;0;100 7.41 False ENSG00000140543 ENSG00000140543 HGNC:25477 DNAH11 gene DNAH11 South West GLH Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus False 1 0;100;0 7.41 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 South West GLH Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus False 1 0;100;0 7.41 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 South West GLH Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus False 1 0;100;0 7.41 False ENSG00000122735 ENSG00000122735 HGNC:2954 FOXH1 gene FOXH1 South West GLH Paediatric disorders - additional genes Developmental disorders Unknown False 1 0;0;100 7.41 False ENSG00000160973 ENSG00000160973 HGNC:3814 GATA5 gene GATA5 South West GLH Paediatric disorders - additional genes Developmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital heart defects, multiple types, 5 False 1 0;0;100 7.41 False ENSG00000130700 ENSG00000130700 HGNC:15802 NKX2-6 gene NKX2-6 South West GLH Paediatric disorders - additional genes Developmental disorders Unknown Conotruncal heart malformations;Persistent truncus arteriosus False 1 0;0;100 7.41 False ENSG00000180053 ENSG00000180053 HGNC:32940 PRDM6 gene PRDM6 South West GLH Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Patent ductus arteriosus 3 False 1 0;0;100 7.41 False ENSG00000061455 ENSG00000061455 HGNC:9350 STK4 gene STK4 South West GLH Paediatric disorders - additional genes Developmental disorders BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations 22294732;22174160 False 1 0;100;0 7.41 False ENSG00000101109 ENSG00000101109 HGNC:11408 TLL1 gene TLL1 South West GLH Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 6 False 1 0;0;100 7.41 False ENSG00000038295 ENSG00000038295 HGNC:11843 VIM gene VIM Literature Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown lipodystrophy HP:0009125;Craniofacial dysostosis HP:0004439;Thoracic scoliosis HP:0002943;amyotrophy 32066935 False 1 0;0;100 7.41 False ENSG00000026025 ENSG00000026025 HGNC:12692 ZFPM2 gene ZFPM2 South West GLH Paediatric disorders - additional genes Developmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tetralogy of Fallot, OMIM:187500 False 1 0;0;100 7.41 False ENSG00000169946 ENSG00000169946 HGNC:16700