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 BMP4 gene BMP4 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMP5 gene BMP5 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000112175 ENSG00000112175 HGNC:1072 EDNRA gene EDNRA Expert Review;Radboud University Medical Center, Nijmegen Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PMID 25772936 False 1 100;0;0 1.16 False Other - please provide details in the comments ENSG00000151617 ENSG00000151617 HGNC:3179 EIF4A3 gene EIF4A3 Expert Review;Radboud University Medical Center, Nijmegen Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal PubMed: 24360810 False 1 100;0;0 1.16 False ENSG00000141543 ENSG00000141543 HGNC:18683 EVC gene EVC Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000072840 ENSG00000072840 HGNC:3497 FOXI3 gene FOXI3 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000214336 ENSG00000214336 HGNC:35123 GDF6 gene GDF6 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000156466 ENSG00000156466 HGNC:4221 HOXA2 gene HOXA2 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Microtia, Hearing Impairment, and Cleft Palate;612290 18394579;23775976 False 1 67;0;33 1.16 False ENSG00000105996 ENSG00000105996 HGNC:5103 KDM6A gene KDM6A Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000147050 ENSG00000147050 HGNC:12637 KMT2D gene KMT2D Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000167548 ENSG00000167548 HGNC:7133 LEMD3 gene LEMD3 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000174106 ENSG00000174106 HGNC:28887 MCM5 gene MCM5 Literature Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders BIALLELIC, autosomal or pseudoautosomal "?Meier-Gorlin syndrome 8 617564" 28198391 False 1 0;0;100 1.16 False ENSG00000100297 ENSG00000100297 HGNC:6948 NKX3-2 gene NKX3-2 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000109705 ENSG00000109705 HGNC:951 OTX2 gene OTX2 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000165588 ENSG00000165588 HGNC:8522 POLR1A gene POLR1A Expert Review Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 3 afftected individuals with Cincinnati type mandibulofacial dysostosis, 616462. 1 de novo, i inherited from an unaffected parent and 1 with parental status unknown. PubMed: 25913037; ;PubMed: 25913037; False 1 100;0;0 1.16 False ENSG00000068654 ENSG00000068654 HGNC:17264 RPS28 gene RPS28 Expert Review Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond Blackfan anaemia with mandibulofacial dysostosis, 606164; two cases only described to date PMID 24942156;PMID 24942156 False 1 0;0;0 1.16 False ENSG00000233927 ENSG00000233927 HGNC:10418 SIX5 gene SIX5 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 33;0;67 1.16 False ENSG00000177045 ENSG00000177045 HGNC:10891 TFAP2A gene TFAP2A Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 67;0;33 1.16 False ENSG00000137203 ENSG00000137203 HGNC:11742 TWSG1 gene TWSG1 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000128791 ENSG00000128791 HGNC:12429 WIF1 gene WIF1 Expert list;Expert Review Red Bilateral microtia Deafness and congenital structural abnormalities Hearing and ear disorders Bilateral Microtia False 1 0;0;100 1.16 False ENSG00000156076 ENSG00000156076 HGNC:18081