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 Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Congenital heart defects and skeletal malformations syndrome, MIM# 617602" 33461977;28288113 False 3 100;0;0 1.16 True ENSG00000097007 ENSG00000097007 HGNC:76 EFEMP2 gene EFEMP2 Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Cutis laxa, autosomal recessive, type IB, MIM# 614437" 30140196;21563328 False 3 100;0;0 1.16 True ENSG00000172638 ENSG00000172638 HGNC:3219 EFNB1 gene EFNB1 Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes Other Craniofrontonasal dysplasia, MIM# 304110;Diaphragmatic hernia 32022998;30469162;21782985;21064195;20734337;30469162 False 3 100;0;0 1.16 True ENSG00000090776 ENSG00000090776 HGNC:3226 FBN1 gene FBN1 Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Marfan syndrome, MIM# 154700" 31829751;33461977 False 3 100;0;0 1.16 True ENSG00000166147 ENSG00000166147 HGNC:3603 GATA6 gene GATA6 Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pancreatic agenesis and congenital heart defects, MIM# 600001" 31301121 False 3 100;0;0 1.16 True ENSG00000141448 ENSG00000141448 HGNC:4174 GPC3 gene GPC3 Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 False 3 100;0;0 1.16 True ENSG00000147257 ENSG00000147257 HGNC:4451 HCCS gene HCCS Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 1, MIM# 309801 False 3 100;0;0 1.16 True ENSG00000004961 ENSG00000004961 HGNC:4837 KMT2D gene KMT2D Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, MIM# 147920 33461977 False 3 100;0;0 1.16 True ENSG00000167548 ENSG00000167548 HGNC:7133 LRP2 gene LRP2 Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM# 222448 False 3 100;0;0 1.16 True ENSG00000081479 ENSG00000081479 HGNC:6694 MED12 gene MED12 Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MED12-related disorders;Hardikar syndrome, OMIM # 301068 PMID: 39215511 False 3 100;0;0 1.16 True ENSG00000184634 ENSG00000184634 HGNC:11957 MYRF gene MYRF Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiac-urogenital syndrome, MIM# 618280" 29446546;29446546;30532227;31069960 False 3 100;0;0 1.16 True ENSG00000124920 ENSG00000124920 HGNC:1181 NIPBL gene NIPBL Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1, MIM# 122470 False 3 100;0;0 1.16 True ENSG00000164190 ENSG00000164190 HGNC:28862 NR2F2 gene NR2F2 Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Congenital heart defects, multiple types, 4, MIM# 615779" 29570242;29966037;27363585 False 3 100;0;0 1.16 True ENSG00000185551 ENSG00000185551 HGNC:7976 PBX1 gene PBX1 Expert Review;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MIM# 617641 28566479;29036646;29966037 False 3 100;0;0 1.16 True ENSG00000185630 ENSG00000185630 HGNC:8632 PIGN gene PIGN Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 PMID: 27038415;24852103 False 3 100;0;0 1.16 True ENSG00000197563 ENSG00000197563 HGNC:8967 PLS3 gene PLS3 Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Diaphragmatic hernia 5, X-linked, MIM# 306950 37751738 False 3 100;0;0 1.16 True ENSG00000102024 ENSG00000102024 HGNC:9091 PORCN gene PORCN Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes Other Focal dermal hypoplasia, MIM# 305600 25026905 False 3 100;0;0 1.16 True ENSG00000102312 ENSG00000102312 HGNC:17652 RAD21 gene RAD21 Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 4, MIM# 614701 30125677 False 3 100;0;0 1.16 True ENSG00000164754 ENSG00000164754 HGNC:9811 RARB gene RARB Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Microphthalmia, syndromic 12, MIM# 615524" 24075189;22686418 False 3 100;0;0 1.16 True ENSG00000077092 ENSG00000077092 HGNC:9865 RLIM gene RLIM Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females "Tonne-Kalscheuer syndrome, MIM# 300978" 29728705;25735484;25644381 False 3 100;0;0 1.16 True ENSG00000131263 ENSG00000131263 HGNC:13429 SETD5 gene SETD5 Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual developmental disorder, autosomal dominant 23 MIM#615761 PMID: 28263952;24680889 False 3 100;0;0 1.16 True ENSG00000168137 ENSG00000168137 HGNC:25566 SPECC1L gene SPECC1L Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Opitz GBBB syndrome, type II, MIM# 145410" 32954677 False 3 100;0;0 1.16 True ENSG00000100014 ENSG00000100014 HGNC:29022 STRA6 gene STRA6 Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, MIM# 601186 26373900;22686418 False 3 100;0;0 1.16 True ENSG00000137868 ENSG00000137868 HGNC:30650 WNT7B gene WNT7B Expert Review Green;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome;Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related 35790350 False 3 100;0;0 1.16 True ENSG00000188064 ENSG00000188064 HGNC:12787 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Denys-Drash syndrome, MIM# 194080 False 3 100;0;0 1.16 True ENSG00000184937 ENSG00000184937 HGNC:12796 ZFPM2 gene ZFPM2 Expert list;Expert Review Green Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diaphragmatic hernia 3, MIM# 610187" 16103912;17568391;24702427 False 3 100;0;0 1.16 True ENSG00000169946 ENSG00000169946 HGNC:16700 ALG12 gene ALG12 Expert Review Amber;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ig, MIM# 607143" 33461977 False 2 0;100;0 1.16 True ENSG00000182858 ENSG00000182858 HGNC:19358 CHD7 gene CHD7 Expert Review Amber;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 17576576;24185968 False 2 0;100;0 1.16 True ENSG00000171316 ENSG00000171316 HGNC:20626 FOXP4 gene FOXP4 Expert Review Amber;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder;multiple congenital abnormalities 33110267 False 2 0;100;0 1.16 True ENSG00000137166 ENSG00000137166 HGNC:20842 FREM1 gene FREM1 Expert Review Amber;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital diaphragmatic hernia 32016392 False 2 0;100;0 1.16 True ENSG00000164946 ENSG00000164946 HGNC:23399 KDM6A gene KDM6A Expert Review Amber;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes 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 False 2 0;100;0 1.16 True ENSG00000147050 ENSG00000147050 HGNC:12637 OFD1 gene OFD1 Expert Review Amber;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 2, MIM# 300209 16783569;27589329 False 2 0;100;0 1.16 True ENSG00000046651 ENSG00000046651 HGNC:2567 SLIT3 gene SLIT3 Expert Review Amber;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital diaphragmatic hernia 33933663 False 2 0;100;0 1.16 True ENSG00000184347 ENSG00000184347 HGNC:11087 SMC1A gene SMC1A Expert Review Amber;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes 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, MIM# 300590 False 2 0;100;0 1.16 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 Expert Review Amber;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 3, MIM# 610759 False 2 0;100;0 1.16 True ENSG00000108055 ENSG00000108055 HGNC:2468 ANKRD11 gene ANKRD11 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "KBG syndrome, MIM# 148050" 33461977 False 1 0;0;100 1.16 True ENSG00000167522 ENSG00000167522 HGNC:21316 BRCA2 gene BRCA2 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group D1, MIM# 605724" False 1 0;0;100 1.16 True ENSG00000139618 ENSG00000139618 HGNC:1101 CDKN1C gene CDKN1C Expert Review Red;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes Unknown Beckwith-Wiedemann syndrome, MIM# 130650 False 1 0;0;100 1.16 True ENSG00000129757 ENSG00000129757 HGNC:1786 DLL3 gene DLL3 Expert Review Red;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 False 1 0;0;100 1.16 True ENSG00000090932 ENSG00000090932 HGNC:2909 FOXC2 gene FOXC2 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Lymphedema-distichiasis syndrome, MIM# 153400" 33461977;27663689 False 1 0;0;100 1.16 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXP1 gene FOXP1 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation with language impairment and with or without autistic features, MIM# 613670" 33461977 False 1 0;0;100 1.16 True ENSG00000114861 ENSG00000114861 HGNC:3823 HDAC8 gene HDAC8 Expert Review Red;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes 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 30614194;24403048 False 1 0;0;100 1.16 True ENSG00000147099 ENSG00000147099 HGNC:13315 LONP1 gene LONP1 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital diaphragmatic hernia 34547244 False 1 0;0;100 1.16 True ENSG00000196365 ENSG00000196365 HGNC:9479 MCPH1 gene MCPH1 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Microcephaly 1, primary, autosomal recessive, MIM# 251200" 33461977 False 1 0;0;100 1.16 True ENSG00000147316 ENSG00000147316 HGNC:6954 NSD1 gene NSD1 Expert Review Red;Victorian Clinical Genetics Services Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1, MIM# 117550 29966037 False 1 0;0;100 1.16 True ENSG00000165671 ENSG00000165671 HGNC:14234 PDHA1 gene PDHA1 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170" 33461977 False 1 0;0;100 1.16 True ENSG00000131828 ENSG00000131828 HGNC:8806 RASA1 gene RASA1 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Capillary malformation-arteriovenous malformation 1, MIM# 608354" 33461977 False 1 0;0;100 1.16 True ENSG00000145715 ENSG00000145715 HGNC:9871 SMARCA4 gene SMARCA4 Expert Review Red;Literature Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Coffin-Siris syndrome 4, MIM# 614609" 33461977 False 1 0;0;100 1.16 True ENSG00000127616 ENSG00000127616 HGNC:11100 TRRAP gene TRRAP Expert list;Expert Review Red Congenital diaphragmatic hernia Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental delay with or without dysmorphic facies and autism, MIM# 618454" 30827496 False 1 0;0;100 1.16 True ENSG00000196367 ENSG00000196367 HGNC:12347