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	1.17	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	1.17	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	1.17	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	1.17	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	1.17	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	1.17	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	1.17	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	1.17	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	1.17	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	1.17	False		ENSG00000124486	ENSG00000124486	HGNC:12632													
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	1.17	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	1.17	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	1.17	False		ENSG00000170381	ENSG00000170381	HGNC:10727