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 PTPN14 gene PTPN14 Expert Review Red;Radboud University Medical Center, Nijmegen Choanal atresia Choanal anomalies Skeletal disorders BIALLELIC, autosomal or pseudoautosomal Choanal atresia and lymphedema, 613611 20826270 False 1 0;0;100 1.16 False ENSG00000152104 ENSG00000152104 HGNC:9647 SALL4 gene SALL4 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Other;Radboud University Medical Center, Nijmegen Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome 607323 False 1 0;0;100 1.16 False ENSG00000101115 ENSG00000101115 HGNC:15924 SEMA3E gene SEMA3E Expert Review Red;Radboud University Medical Center, Nijmegen Choanal atresia Choanal anomalies Skeletal disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, 214800 False 1 0;0;100 1.16 False ENSG00000170381 ENSG00000170381 HGNC:10727