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 ALG8 gene ALG8 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Liver Disease 3 (617874);Congenital disorder of glycosylation, type Ih (608104) 28375157;15235028 False 3 100;0;0 1.31 False ENSG00000159063 ENSG00000159063 HGNC:23161 CC2D2A gene CC2D2A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9 (612285);Meckel syndrome 6 (612284);COACH syndrome (216360);congenital hepatic fibrosis 18513680;19574260 False 3 100;0;0 1.31 False ENSG00000048342 ENSG00000048342 HGNC:29253 DGUOK gene DGUOK Expert list;Expert Review Green;Literature Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Portal hypertension, noncirrhotic (617068) 30234759;17073823;26874653 False 3 50;50;0 1.31 False ENSG00000114956 ENSG00000114956 HGNC:2858 DNAJB11 gene DNAJB11 Expert Review Green;NHS GMS Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 6 with or without polycystic liver disease (618061) 29706351 False 3 100;0;0 1.31 False ENSG00000090520 ENSG00000090520 HGNC:14889 GANAB gene GANAB Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 3 (600666) 29243290;27259053;28862642 False 3 100;0;0 1.31 False ENSG00000089597 ENSG00000089597 HGNC:4138 LRP5 gene LRP5 Emory Genetics Laboratory;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic liver disease 4 with or without kidney cysts (617875) 25920554 False 3 100;0;0 1.31 False ENSG00000162337 ENSG00000162337 HGNC:6697 PKD1 gene PKD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Kidney Disease 1 with or without polycystic liver disease (173900) 8554072;3178424;9211343 False 3 100;0;0 1.31 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Kidney Disease 2 with or without polycystic liver disease (613095) 29321346 False 3 100;0;0 1.31 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BOTH monoallelic and biallelic, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 11135065;30211211;11919560;28862642;11337358 False 3 100;0;0 1.31 False ENSG00000170927 ENSG00000170927 HGNC:9016 PRKCSH gene PRKCSH Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Liver Disease 1 with or without kidney cysts (174050) 11047756;29038287;12529853;12577059 False 3 100;0;0 1.31 False ENSG00000130175 ENSG00000130175 HGNC:9411 RPGRIP1L gene RPGRIP1L Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7 (611560);Meckel syndrome 5 (611561);COACH syndrome (216360) 17558409;19574260 False 3 100;0;0 1.31 False ENSG00000103494 ENSG00000103494 HGNC:29168 SEC63 gene SEC63 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Liver Disease 2 with or without kidney cysts (617004) 15133510 False 3 100;0;0 1.31 False ENSG00000025796 ENSG00000025796 HGNC:21082 TMEM67 gene TMEM67 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 3 (607361);Nephronophthisis 11 (613550);Joubert syndrome 6 (310688);{Bardet-Biedl syndrome 14, modifier of} (615991);COACH syndrome (216360);congenital hepatic fibrosis 19058225;16415887;28680603;26191240 False 3 100;0;0 1.31 False ENSG00000164953 ENSG00000164953 HGNC:28396 TULP3 gene TULP3 Expert list;Expert Review Green Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, OMIM:619902 35397207;36276950;36460032 False 3 100;0;0 1.31 False ENSG00000078246 ENSG00000078246 HGNC:12425 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21763481;21493627 False 2 50;0;50 1.31 False ENSG00000108641 ENSG00000108641 HGNC:24123 RTEL1 gene RTEL1 Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Ductal plate malformation BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5 (615190);Dyskeratosiscongenita, autosomal dominant 4 (615190) 28495916 False 2 0;100;0 1.31 False ENSG00000258366 ENSG00000258366 HGNC:15888 SEC61B gene SEC61B Expert list;Expert Review Amber;Literature;NHS GMS Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Association with polycystic liver disease 1 with or without renal cysts 28862642 False 2 100;0;0 1.31 False ENSG00000106803 ENSG00000106803 HGNC:16993 STN1 gene STN1 Expert list;Expert Review Amber;NHS GMS Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2 (617341) 27432940 False 2 0;100;0 1.31 False ENSG00000107960 ENSG00000107960 HGNC:26200 TERC gene TERC Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosiscongenita, autosomal dominant 1 (127550) 21436073;19936245;22341970 False 2 0;100;0 1.31 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;NHS GMS Ductal plate malformation BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal dominant 2} (613989);{Dyskeratosis congenita, autosomal recessive 4} (613989) 21436073;19936245;21483807 False 2 0;100;0 1.31 False ENSG00000164362 ENSG00000164362 HGNC:11730 ACD gene ACD Radboud University Medical Center, Nijmegen Ductal plate malformation BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal dominant 6, OMIM:616553;Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 False 1 0;0;0 1.31 False ENSG00000102977 ENSG00000102977 HGNC:25070 AGT gene AGT Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis (267430) False 1 0;0;100 1.31 False ENSG00000135744 ENSG00000135744 HGNC:333 BICC1 gene BICC1 Expert list;Expert Review Red Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Renal dysplasia, cystic, susceptibility to} (601331) False 1 0;0;100 1.31 False ENSG00000122870 ENSG00000122870 HGNC:19351 BSND gene BSND Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a (602522);Sensorineural deafness with mild renal dysfunction (602522) False 1 0;0;100 1.31 False ENSG00000162399 ENSG00000162399 HGNC:16512 CCDC103 gene CCDC103 UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17 (614679) False 1 0;0;0 1.31 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20 (615067) False 1 0;0;0 1.31 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC39 gene CCDC39 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14 (613807) False 1 0;0;100 1.31 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15 (613808) False 1 0;0;100 1.31 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCND1 gene CCND1 Expert list Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {von Hippel-Lindau syndrome, modifier of} (193300);{Colorectal cancer, susceptibility to} (114500) False 1 0;0;0 1.31 False ENSG00000110092 ENSG00000110092 HGNC:1582 CLCNKB gene CLCNKB Expert list;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 False 1 0;0;0 1.31 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN16 gene CLDN16 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal (248250) False 1 0;0;100 1.31 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement (248190) False 1 0;0;100 1.31 False ENSG00000164007 ENSG00000164007 HGNC:2040 CPT2 gene CPT2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 False 1 0;0;100 1.31 False ENSG00000157184 ENSG00000157184 HGNC:2330 CTC1 gene CTC1 Illumina TruGenome Clinical Sequencing Services Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts (612199) False 1 0;0;0 1.31 False ENSG00000178971 ENSG00000178971 HGNC:26169 DKC1 gene DKC1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Ductal plate malformation X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked (305000) False 1 0;0;100 1.31 False ENSG00000130826 ENSG00000130826 HGNC:2890 DNAAF1 gene DNAAF1 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13 (613193) False 1 0;0;100 1.31 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation Unknown Ciliary dyskinesia, primary, 10 (612518) False 1 0;0;100 1.31 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2 (606763) False 1 0;0;100 1.31 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF5 gene DNAAF5 UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18 (614874) False 1 0;0;0 1.31 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus (611884) False 1 0;0;100 1.31 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus (608644) False 1 0;0;100 1.31 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus (244400) False 1 0;0;100 1.31 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation Unknown Ciliary dyskinesia, primary, 9, with or without situs inversus (612444) False 1 0;0;100 1.31 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAL1 gene DNAL1 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16 (614017) False 1 0;0;100 1.31 False ENSG00000119661 ENSG00000119661 HGNC:23247 EYA1 gene EYA1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootic syndrome 1 (602588);Branchiootorenal syndrome 1, with or without cataracts (113650) False 1 0;0;100 1.31 False ENSG00000104313 ENSG00000104313 HGNC:3519 FANCD2 gene FANCD2 Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2 (227646) False 1 0;0;0 1.31 False ENSG00000144554 ENSG00000144554 HGNC:3585 GRHPR gene GRHPR Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II (260000) False 1 0;0;100 1.31 False ENSG00000137106 ENSG00000137106 HGNC:4570 HOGA1 gene HOGA1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III (613616) False 1 0;0;100 1.31 False ENSG00000241935 ENSG00000241935 HGNC:25155 HYDIN gene HYDIN UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5 (608647) False 1 0;0;0 1.31 False ENSG00000157423 ENSG00000157423 HGNC:19368 INTU gene INTU Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 20 with polydactyly (617925);?Orofaciodigital syndrome XVII (617926) False 1 0;0;0 1.31 False ENSG00000164066 ENSG00000164066 HGNC:29239 JAG1 gene JAG1 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alagille syndrome 1, OMIM:118450 False 1 0;50;50 1.31 False ENSG00000101384 ENSG00000101384 HGNC:6188 KCNN3 gene KCNN3 Expert Review Red;Literature Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown No OMIM number;portal hypertension;varices;splenomegaly 26658685 False 1 100;0;0 1.31 False ENSG00000143603 ENSG00000143603 HGNC:6292 KIF14 gene KIF14 Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 False 1 0;0;0 1.31 False ENSG00000118193 ENSG00000118193 HGNC:19181 LRRC6 gene LRRC6 UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19 (614935) False 1 0;0;0 1.31 False ENSG00000129295 ENSG00000129295 HGNC:16725 MRE11 gene MRE11 Expert list;Illumina TruGenome Clinical Sequencing Services Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1 (604391) False 1 0;0;0 1.31 False ENSG00000020922 ENSG00000020922 HGNC:7230 NHP2 gene NHP2 Illumina TruGenome Clinical Sequencing Services Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2 (613987) False 1 0;0;0 1.31 False ENSG00000145912 ENSG00000145912 HGNC:14377 NLRP1 gene NLRP1 Radboud University Medical Center, Nijmegen Ductal plate malformation BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autoinflammation with arthritis and dyskeratosis (617388) False 1 0;0;0 1.31 False ENSG00000091592 ENSG00000091592 HGNC:14374 NME8 gene NME8 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6 (610852) False 1 0;0;100 1.31 False ENSG00000086288 ENSG00000086288 HGNC:16473 NOP10 gene NOP10 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, 224230 False 1 0;0;100 1.31 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOTCH2 gene NOTCH2 Expert Review Red;Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alagille syndrome 2 (610205) False 1 0;50;50 1.31 False ENSG00000134250 ENSG00000134250 HGNC:7882 NXPH2 gene NXPH2 Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile (602088) False 1 0;0;0 1.31 False ENSG00000144227 ENSG00000144227 HGNC:8076 PAX2 gene PAX2 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis, focal segmental, 7 (616002);Papillorenal syndrome (120330) False 1 0;0;0 1.31 False ENSG00000075891 ENSG00000075891 HGNC:8616 PEX1 gene PEX1 Expert list;Expert Review Red Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 1B (NALD/IRD) (601539);Peroxisome biogenesis disorder 1A (Zellweger) (214100) 12032265 False 1 0;50;50 1.31 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) (614870);Peroxisome biogenesis disorder 6B (614871) False 1 0;0;0 1.31 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 14B (614920) False 1 0;0;0 1.31 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3B (266510);Peroxisome biogenesis disorder 3A (Zellweger) (614859) False 1 0;0;0 1.31 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11B (614885);Peroxisome biogenesis disorder 11A (Zellweger) (614883) False 1 0;0;0 1.31 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Red;Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger) (614887) False 1 0;0;100 1.31 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8A (Zellweger) (614876);Peroxisome biogenesis disorder 8B (614877) False 1 0;0;0 1.31 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 12A (Zellweger) (614886) False 1 0;0;0 1.31 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) (614866);Peroxisome biogenesis disorder 5B (614867) False 1 0;0;0 1.31 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) (614872);Peroxisome biogenesis disorder 7B (614873) False 1 0;0;0 1.31 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal ?Peroxisome biogenesis disorder 10B (617370);Peroxisome biogenesis disorder 10A (Zellweger) (614882) False 1 0;0;0 1.31 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2B (202370);Peroxisome biogenesis disorder 2A (Zellweger) (214110) False 1 0;0;0 1.31 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (614862);Peroxisome biogenesis disorder 4B (614863) False 1 0;0;0 1.31 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B (614879) False 1 0;0;0 1.31 False ENSG00000112357 ENSG00000112357 HGNC:8860 PKD1L1 gene PKD1L1 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 8, autosomal (617205) False 1 0;0;0 1.31 False ENSG00000158683 ENSG00000158683 HGNC:18053 REN gene REN Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis (267430) False 1 0;0;100 1.31 False ENSG00000143839 ENSG00000143839 HGNC:9958 RSPH4A gene RSPH4A Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11 (612649) False 1 0;0;100 1.31 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory;Expert Review Red;UKGTN Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12 (612650) False 1 0;0;100 1.31 False ENSG00000172426 ENSG00000172426 HGNC:21057 SIX5 gene SIX5 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal syndrome 2 (610896) False 1 0;0;0 1.31 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLC12A3 gene SLC12A3 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 26770037;30999883 False 1 0;0;0 1.31 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC41A1 gene SLC41A1 Expert list Ductal plate malformation Unknown No OMIM False 1 0;0;0 1.31 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC4A1 gene SLC4A1 Radboud University Medical Center, Nijmegen, Expert list Ductal plate malformation BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal tubular acidosis, distal, AR (611590);Renal tubular acidosis, distal, AD (179800) False 1 0;0;0 1.31 False ENSG00000004939 ENSG00000004939 HGNC:11027 TINF2 gene TINF2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3 (613990) False 1 0;0;100 1.31 False ENSG00000092330 ENSG00000092330 HGNC:11824 WRAP53 gene WRAP53 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ductal plate malformation BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3 (613988) False 1 0;0;100 1.31 False ENSG00000141499 ENSG00000141499 HGNC:25522