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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Congenital heart defects and skeletal malformations syndrome 617602" 28288113 False 3 100;0;0 3.9 False Other ENSG00000097007 ENSG00000097007 HGNC:76 ACE gene ACE Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal CAKUT;Renal Tubular Dysgenesis 16116425;22095942;30058238;30071301 False 3 0;0;0 3.9 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTC1 gene ACTC1 Expert Review Green;South West GLH Paediatric disorders - additional genes 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 3.9 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTG2 gene ACTG2 Expert Review Green;Other Paediatric disorders - additional genes 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 3.9 False ENSG00000163017 ENSG00000163017 HGNC:145 ACVR2B gene ACVR2B Expert Review Green;Literature Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751 9916847 False 3 100;0;0 3.9 False ENSG00000114739 ENSG00000114739 HGNC:174 ADAMTS19 gene ADAMTS19 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Non-syndromic heart valve disease;heart valve disease, MONDO:0002869 31844321;32323311 False 3 50;50;0 3.9 False ENSG00000145808 ENSG00000145808 HGNC:17111 AGT gene AGT Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, 267430;CAKUT 16116425;15017542 False 3 0;0;0 3.9 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal CAKUT;Hypertension, essential, 145500;Renal Tubular Dysgenesis;Renal tubular dysgenesis, 267430 False 3 0;0;0 3.9 False ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review Green;Other Paediatric disorders - additional genes 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 3.9 False ENSG00000011201 ENSG00000011201 HGNC:6211 ASCC1 gene ASCC1 DD-Gene2Phenotype;Expert Review Green Paediatric disorders - additional genes 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 3.9 False ENSG00000138303 ENSG00000138303 HGNC:24268 CDH2 gene CDH2 Expert Review Green;Literature Paediatric disorders - additional genes 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 3.9 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDX1 gene CDX1 Expert Review Green;Literature Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown anorectal malformation 23329892;27042391 False 3 0;0;0 3.9 False ENSG00000113722 ENSG00000113722 HGNC:1805 CFAP53 gene CFAP53 Expert Review Green;South West GLH Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive False 3 100;0;0 3.9 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert Review Green;Literature Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Heterotaxy, visceral, 2, autosomal 605376" 11062482;11799476 False 3 100;0;0 3.9 False ENSG00000136698 ENSG00000136698 HGNC:18292 CHRNA3 gene CHRNA3 Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal CAKUT;dysautonomia;Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 31708116 False 3 0;0;0 3.9 False ENSG00000080644 ENSG00000080644 HGNC:1957 CTU2 gene CTU2 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, OMIM:618142 26633546;27480277;31301155 False 3 100;0;0 3.9 False ENSG00000174177 ENSG00000174177 HGNC:28005 FOXI3 gene FOXI3 Expert Review;Expert Review Green;NHS GMS Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bilateral Microtia;Congenital aural atresia 36260083;25655429;18787161;24650709 False 3 100;0;0 3.9 False ENSG00000214336 ENSG00000214336 HGNC:35123 FOXL2 gene FOXL2 Expert Review Green;NHS GMS;Other Paediatric disorders - additional genes BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 3 33;67;0 3.9 False ENSG00000183770 ENSG00000183770 HGNC:1092 FOXP4 gene FOXP4 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder;multiple congenital abnormalities 33110267 False 3 67;33;0 3.9 False ENSG00000137166 ENSG00000137166 HGNC:20842 GATA3 gene GATA3 Expert Review Green;Other Paediatric disorders - additional genes 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 3.9 False ENSG00000107485 ENSG00000107485 HGNC:4172 GDF1 gene GDF1 Expert Review Green;South West GLH Paediatric disorders - additional genes 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 3.9 False ENSG00000130283 ENSG00000130283 HGNC:4214 GREB1L gene GREB1L Expert Review Green;Other Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT;Renal hypodysplasia/aplasia 3, 617805;inner ear malformations 29100091;29220675;29261186;29955957 False 3 0;0;0 3.9 False ENSG00000141449 ENSG00000141449 HGNC:31042 HYAL2 gene HYAL2 Expert Review Green;Literature Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal cor triatriatum;congenital cardiac malformations 28081210;23172227;26515055 False 3 0;100;0 3.9 False ENSG00000068001 ENSG00000068001 HGNC:5321 IARS gene IARS Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093 27426735;29903433 False 3 0;0;0 3.9 False ENSG00000196305 ENSG00000196305 HGNC:5330 IER3IP1 gene IER3IP1 Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 21835305;22991235;24138066 False 3 0;0;0 3.9 False ENSG00000134049 ENSG00000134049 HGNC:18550 ITGA8 gene ITGA8 Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal CAKUT;Renal hypodysplasia/aplasia 1, 191830 False 3 0;0;0 3.9 False ENSG00000077943 ENSG00000077943 HGNC:6144 LRIG2 gene LRIG2 Expert Review Green;Other Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal CAKUT;Urofacial syndrome 2, 615112;Congenital bladder disease: dyssynergic, high pressure bladder.;Urofacial syndrome 23313374 False 3 0;0;0 3.9 False ENSG00000198799 ENSG00000198799 HGNC:20889 MYH7 gene MYH7 Expert Review Green;South West GLH Paediatric disorders - additional genes 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 3.9 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYOCD gene MYOCD Expert Review;Expert Review Green Paediatric disorders - additional genes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder, congenital, OMIM:618719;Megabladder, congenital, MONDO:0032879 31513549 False 3 0;100;0 3.9 False ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert list;Expert Review Green;Literature Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3 618845 31883644 False 3 0;100;0 3.9 False ENSG00000172890 ENSG00000172890 HGNC:29832 NHLRC2 gene NHLRC2 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal FINCA syndrome OMIM:618278 29423877;32435055 False 3 100;0;0 3.9 False ENSG00000196865 ENSG00000196865 HGNC:24731 OTUD5 gene OTUD5 Expert Review;Expert Review Green;NHS GMS Paediatric disorders - additional genes 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 3.9 False ENSG00000068308 ENSG00000068308 HGNC:25402 PAPPA2 gene PAPPA2 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Short stature, Dauber-Argente type, OMIM:619489 26902202;33875846;34272725 False 3 100;0;0 3.9 False ENSG00000116183 ENSG00000116183 HGNC:14615 PIGQ gene PIGQ Expert Review Green;Literature Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 32588908;24463883;25558065;31148362 False 3 100;0;0 3.9 False ENSG00000007541 ENSG00000007541 HGNC:14135 PLD1 gene PLD1 Expert Review Green;NHS GMS;South West GLH Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Cardiac valvular defect, developmental, OMIM:212093 27799408;33645542 False 3 50;50;0 3.9 False ENSG00000075651 ENSG00000075651 HGNC:9067 PLVAP gene PLVAP Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 29875123;29661969;26207260;31215290 False 3 100;0;0 3.9 False ENSG00000130300 ENSG00000130300 HGNC:13635 PLXND1 gene PLXND1 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Truncus arteriosus, HP:0001660 35396997 False 3 100;0;0 3.9 False ENSG00000004399 ENSG00000004399 HGNC:9107 REN gene REN Expert Review Green;Other Paediatric disorders - additional genes 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 3.9 False ENSG00000143839 ENSG00000143839 HGNC:9958 RINT1 gene RINT1 Expert Review Green;Literature Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 3 OMIM:618641;infantile liver failure syndrome 3 MONDO:0032844 31204009 False 3 100;0;0 3.9 False ENSG00000135249 ENSG00000135249 HGNC:21876 SIX2 gene SIX2 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted six2-related frontonasal dysplasia, MONDO:0044628 27383657;29315086;26581443 False 3 100;0;0 3.9 False ENSG00000170577 ENSG00000170577 HGNC:10888 SOX11 gene SOX11 Expert list;Expert Review Green Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27;Coffin-Siris syndrome 9, 615866 False 3 0;0;0 3.9 False ENSG00000176887 ENSG00000176887 HGNC:11191 STN1 gene STN1 Expert Review Green;Literature Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM:617341 27432940;32627942 False 3 100;0;0 3.9 False ENSG00000107960 ENSG00000107960 HGNC:26200 TBX18 gene TBX18 Expert Review Green;Other Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT;Congenital anomalies of kidney and urinary tract 2, 143400 26235987 False 3 0;0;0 3.9 False ENSG00000112837 ENSG00000112837 HGNC:11595 TMEM260 gene TMEM260 Expert Review Green;NHS GMS;PAGE DD-Gene2Phenotype Paediatric disorders - additional genes 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 3.9 False ENSG00000070269 ENSG00000070269 HGNC:20185 TOR1AIP1 gene TOR1AIP1 Expert list;Expert Review Green;NHS GMS Paediatric disorders - additional genes 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 3.9 False ENSG00000143337 ENSG00000143337 HGNC:29456 TRAP1 gene TRAP1 Expert Review Green Paediatric disorders - additional genes 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 3.9 False ENSG00000126602 ENSG00000126602 HGNC:16264 TSPYL1 gene TSPYL1 Expert Review Green;Literature Paediatric disorders - additional genes 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 3.9 False ENSG00000189241 ENSG00000189241 HGNC:12382 TTN gene TTN DD-Gene2Phenotype;Expert Review Green Paediatric disorders - additional genes BIALLELIC, autosomal or pseudoautosomal CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 29575618;17444505;29691892;28040389 False 3 0;100;0 3.9 False ENSG00000155657 ENSG00000155657 HGNC:12403 WBP11 gene WBP11 Expert Review Green;Literature;NHS GMS Paediatric disorders - additional genes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 3.9 False ENSG00000084463 ENSG00000084463 HGNC:16461