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
CDC6	gene	CDC6	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;613805				21358632		False	3	100;0;0	1.16	False		ENSG00000094804	ENSG00000094804	HGNC:1744													
CDT1	gene	CDT1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;613804				21358632		False	3	100;0;0	1.16	False		ENSG00000167513	ENSG00000167513	HGNC:24576													
CHD7	gene	CHD7	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;214800				15300250		False	3	50;0;50	1.16	False		ENSG00000171316	ENSG00000171316	HGNC:20626													
DHODH	gene	DHODH	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;263750				19915526		False	3	50;0;50	1.16	False		ENSG00000102967	ENSG00000102967	HGNC:2867													
EFTUD2	gene	EFTUD2	Eligibility statement exclusion criteria;Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;610536				22305528		False	3	100;0;0	1.16	False		ENSG00000108883	ENSG00000108883	HGNC:30858													
EYA1	gene	EYA1	Eligibility statement exclusion criteria;Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;pre auricular pits;113650				9020840		False	3	100;0;0	1.16	False		ENSG00000104313	ENSG00000104313	HGNC:3519													
FGF10	gene	FGF10	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;149730				16630169		False	3	50;0;50	1.16	False		ENSG00000070193	ENSG00000070193	HGNC:3666													
FGF3	gene	FGF3	Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	610706				17236138		False	3	100;0;0	1.16	False		ENSG00000186895	ENSG00000186895	HGNC:3681													
FGFR2	gene	FGFR2	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Bilateral Microtia;LADD syndrome	149730"				16501574		False	3	50;0;50	1.16	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000066468	ENSG00000066468	HGNC:3689													
FGFR3	gene	FGFR3	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;149730				16501574		False	3	50;0;50	1.16	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000068078	ENSG00000068078	HGNC:3690													
FRAS1	gene	FRAS1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;219000				12766769		False	3	50;0;50	1.16	False		ENSG00000138759	ENSG00000138759	HGNC:19185													
FREM2	gene	FREM2	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;248450				15838507		False	3	50;0;50	1.16	False		ENSG00000150893	ENSG00000150893	HGNC:25396													
GNAI3	gene	GNAI3	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;602483				22560091		False	3	50;0;50	1.16	False		ENSG00000065135	ENSG00000065135	HGNC:4387													
GRIP1	gene	GRIP1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;219000						False	3	50;0;50	1.16	False		ENSG00000155974	ENSG00000155974	HGNC:18708													
GSC	gene	GSC	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;602471				24290375		False	3	50;0;50	1.16	False		ENSG00000133937	ENSG00000133937	HGNC:4612													
HMX1	gene	HMX1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;612109				18423520;25574057		False	3	50;0;50	1.16	False		ENSG00000215612	ENSG00000215612	HGNC:5017													
ORC1	gene	ORC1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;224690				21358632		False	3	100;0;0	1.16	False		ENSG00000085840	ENSG00000085840	HGNC:8487													
ORC4	gene	ORC4	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;613800				21358631		False	3	100;0;0	1.16	False		ENSG00000115947	ENSG00000115947	HGNC:8490													
ORC6	gene	ORC6	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;613803				21358632		False	3	100;0;0	1.16	False		ENSG00000091651	ENSG00000091651	HGNC:17151													
PLCB4	gene	PLCB4	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Bilateral Microtia;614669				23315542		False	3	50;0;50	1.16	False		ENSG00000101333	ENSG00000101333	HGNC:9059													
POLR1C	gene	POLR1C	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	BIALLELIC, autosomal or pseudoautosomal	Bilateral Microtia;248390				21131976		False	3	100;0;0	1.16	False		ENSG00000171453	ENSG00000171453	HGNC:20194													
POLR1D	gene	POLR1D	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;613717				21131976		False	3	100;0;0	1.16	False		ENSG00000186184	ENSG00000186184	HGNC:20422													
SALL1	gene	SALL1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;107480				17431915;8669439		False	3	100;0;0	1.16	False		ENSG00000103449	ENSG00000103449	HGNC:10524													
SF3B4	gene	SF3B4	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;154400				22541558;23568615		False	3	50;0;50	1.16	False		ENSG00000143368	ENSG00000143368	HGNC:10771													
SIX1	gene	SIX1	Eligibility statement exclusion criteria;Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;pre auricular pits;608389				18330911;15141091		False	3	50;0;50	1.16	False		ENSG00000126778	ENSG00000126778	HGNC:10887													
TCOF1	gene	TCOF1	Expert list;Expert Review Green	Bilateral microtia	Deafness and congenital structural abnormalities	Hearing and ear disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bilateral Microtia;154500				9096354		False	3	50;0;50	1.16	False		ENSG00000070814	ENSG00000070814	HGNC:11654