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 CHD7 gene CHD7 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, 214800 False 3 100;0;0 1.16 False ENSG00000171316 ENSG00000171316 HGNC:20626 CTNND1 gene CTNND1 Expert Review Green;Literature Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown chonal atresia 32196547 False 3 0;0;0 1.16 False ENSG00000198561 ENSG00000198561 HGNC:2515 EFTUD2 gene EFTUD2 Expert Review;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mandibulofacial dysostosis, Guion-Almeida type 610536" 22305528 False 3 100;0;0 1.16 False ENSG00000108883 ENSG00000108883 HGNC:30858 FAM20C gene FAM20C Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Choanal atresia Choanal anomalies Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Raine syndrome 259775" 25974638 False 3 100;0;0 1.16 False ENSG00000177706 ENSG00000177706 HGNC:22140 FGFR2 gene FGFR2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Apert syndrome 101200;Beare-Stevenson cutis gyrata syndrome 123790;Pfeiffer syndrome 101600;Craniofacial-skeletal-dermatologic dysplasia 101600;Craniosynostosis, nonspecific False 3 0;0;0 1.16 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Crouzon syndrome with acanthosis nigricans 612247" 11426459;17935505;20199409 False 3 0;0;0 1.16 False ENSG00000068078 ENSG00000068078 HGNC:3690 FOXE1 gene FOXE1 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Choanal atresia Choanal anomalies Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Bamforth-Lazarus syndrome 241850" 9697705;24219130;20453517 False 3 100;0;0 1.16 False ENSG00000178919 ENSG00000178919 HGNC:3806 SPINT2 gene SPINT2 Expert Review Green;Radboud University Medical Center, Nijmegen Choanal atresia Choanal anomalies Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Diarrhea 3, secretory sodium, congenital, syndromic 270420" False 3 100;0;0 1.16 False ENSG00000167642 ENSG00000167642 HGNC:11247 TXNL4A gene TXNL4A Expert Review Green;Research Choanal atresia Choanal anomalies Skeletal disorders BIALLELIC, autosomal or pseudoautosomal "Burn-McKeown syndrome 608572" 25434003 False 3 100;0;0 1.16 False Other - please provide details in the comments ENSG00000141759 ENSG00000141759 HGNC:30551 USP9X gene USP9X Expert list;Expert Review Green Choanal atresia Choanal anomalies Skeletal disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked 99, syndromic, female-restricted 300968 26833328 False 3 100;0;0 1.16 False ENSG00000124486 ENSG00000124486 HGNC:12632