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
BMP5	gene	BMP5	Expert list;Expert Review Red;Literature	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;Congenital microtia						False	1	0;50;50	1.37	False		ENSG00000112175	ENSG00000112175	HGNC:1072													
DACT1	gene	DACT1	Literature;Other	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?Townes-Brocks syndrome 2,617466; TBS2				28054444;22610794;19701191		False	1	0;0;100	1.37	False		ENSG00000165617	ENSG00000165617	HGNC:17748													
EVC	gene	EVC	Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;Weyers acrodental dysostosis						False	1	0;0;100	1.37	False		ENSG00000072840	ENSG00000072840	HGNC:3497													
FOXI1	gene	FOXI1	Expert Review Red;Radboud University Medical Center, Nijmegen	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Enlarged vestibular aqueduct, 600791						False	1	0;100;0	1.37	False		ENSG00000168269	ENSG00000168269	HGNC:3815													
LEMD3	gene	LEMD3	Expert list;Expert Review Red	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;Buschke-Ollendorff syndrome 166700, Osteopoikilosis 166700;Melorheostosis with osteopoikilosis 155950				PMID:10671519;12684533;12749062;15489854;15601644;17087626;17223882;19438932;19720741;9295073		False	1	0;20;80	1.37	False		ENSG00000174106	ENSG00000174106	HGNC:28887													
NKX3-2	gene	NKX3-2	Expert list;Expert Review Red	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;Spondylo-megaepiphyseal-metaphyseal dysplasia				11702952;14973294;16407370;20004766;9256352;9344671;9426254		False	1	0;25;75	1.37	False		ENSG00000109705	ENSG00000109705	HGNC:951													
PORCN	gene	PORCN	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Focal Dermal Hypoplasia, 305600						False	1	0;0;100	1.37	False		ENSG00000102312	ENSG00000102312	HGNC:17652													
SIX5	gene	SIX5	Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Branchiootorenal syndrome 2, OMIM:610896				10773454;10802667;10802668;11978764;14704431;15163633;17357085;21280147;7777532;8595416;9158137;9241282;9241283;9949207		False	1	25;0;75	1.37	False		ENSG00000177045	ENSG00000177045	HGNC:10891													
TWSG1	gene	TWSG1	Expert list;Expert Review Red	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	Unknown	Bilateral Microtia				10866189;11260715;11260716;11260717		False	1	0;0;100	1.37	False		ENSG00000128791	ENSG00000128791	HGNC:12429													
WIF1	gene	WIF1	Expert list;Expert Review Red	Deafness and congenital structural abnormalities	Deafness and congenital structural abnormalities	Hearing and ear disorders	Unknown	Bilateral Microtia						False	1	0;0;100	1.37	False		ENSG00000156076	ENSG00000156076	HGNC:18081