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;Genomics England PanelApp;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, MIM# 214800;MONDO:0008965						False	3	100;0;0	1.6	True		ENSG00000171316	ENSG00000171316	HGNC:20626													
CTNND1	gene	CTNND1	Expert Review Green;Genomics England PanelApp;Literature	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Blepharocheilodontic syndrome 2, MIM# 617681;MONDO:0040503;chonal atresia				32196547		False	3	100;0;0	1.6	True		ENSG00000198561	ENSG00000198561	HGNC:2515													
EFTUD2	gene	EFTUD2	Expert Review;Expert Review Green;Genomics England PanelApp;Radboud University Medical Center, Nijmegen;UKGTN	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Mandibulofacial dysostosis, Guion-Almeida type	MIM#610536;MONDO:0012516"				22305528		False	3	100;0;0	1.6	True		ENSG00000108883	ENSG00000108883	HGNC:30858													
FAM20C	gene	FAM20C	Emory Genetics Laboratory;Expert Review Green;Genomics England PanelApp;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Raine syndrome, MIM# 259775;MONDO:0009821				25974638;19250384;32299476;20825432;33676444;32833257		False	3	100;0;0	1.6	True		ENSG00000177706	ENSG00000177706	HGNC:22140													
FGFR2	gene	FGFR2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Genomics England PanelApp;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Apert syndrome 101200;Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Craniosynostosis, nonspecific;Pfeiffer syndrome 101600;Craniofacial-skeletal-dermatologic dysplasia 101600;Beare-Stevenson cutis gyrata syndrome 123790						False	3	100;0;0	1.6	True		ENSG00000066468	ENSG00000066468	HGNC:3689													
FGFR3	gene	FGFR3	Eligibility statement prior genetic testing;Expert Review Green;Genomics England PanelApp;Radboud University Medical Center, Nijmegen;UKGTN	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Crouzon syndrome with acanthosis nigricans	612247"				20199409;17935505;11426459;31016899		False	3	100;0;0	1.6	True		ENSG00000068078	ENSG00000068078	HGNC:3690													
FOXE1	gene	FOXE1	Emory Genetics Laboratory;Expert Review Green;Genomics England PanelApp;Literature;Radboud University Medical Center, Nijmegen;UKGTN	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Bamforth-Lazarus syndrome, MIM# 241850;MONDO:0009437				20453517;24219130;9697705;12165566;16882747;20484477		False	3	100;0;0	1.6	True		ENSG00000178919	ENSG00000178919	HGNC:3806													
KMT2D	gene	KMT2D	Expert Review;Expert Review Green	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Kabuki syndrome 1, MIM#	147920"				27991736;24705355;31949313;32083401		False	3	100;0;0	1.6	True		ENSG00000167548	ENSG00000167548	HGNC:7133													
RERE	gene	RERE	Expert Review;Expert Review Green	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM#	616975"				27087320;29330883		False	3	100;0;0	1.6	True		ENSG00000142599	ENSG00000142599	HGNC:9965													
SHH	gene	SHH	Expert list;Expert Review Green	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Single median maxillary central incisor, MIM#	147250"						False	3	100;0;0	1.6	True		ENSG00000164690	ENSG00000164690	HGNC:10848													
SMCHD1	gene	SMCHD1	Expert list;Expert Review Green	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Bosma arhinia microphthalmia syndrome, MIM#	603457;Arhinia, choanal atresia, microphthalmia MONDO:0011323"				28067909		False	3	100;0;0	1.6	True	Other	ENSG00000101596	ENSG00000101596	HGNC:29090													
SPINT2	gene	SPINT2	Expert Review Green;Genomics England PanelApp;Radboud University Medical Center, Nijmegen	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Diarrhoea 3, secretory sodium, congenital, syndromic, MIM#	270420;MONDO:0010036"				19185281;20009592;24142340;30445423		False	3	100;0;0	1.6	True		ENSG00000167642	ENSG00000167642	HGNC:11247													
TXNL4A	gene	TXNL4A	Expert Review Green;Genomics England PanelApp;Research	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Burn-McKeown syndrome, MIM#	608572;Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064"				25434003		False	3	100;0;0	1.6	True	Other - please provide details in the comments	ENSG00000141759	ENSG00000141759	HGNC:30551													
USP9X	gene	USP9X	Expert list;Expert Review Green;Genomics England PanelApp	Choanal atresia		Dysmorphic and congenital abnormality syndromes	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Intellectual developmental disorder 99 MIM#300919;syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968				26833328;33638286;33298948		False	3	100;0;0	1.6	True		ENSG00000124486	ENSG00000124486	HGNC:12632													
PTPN14	gene	PTPN14	Expert Review Amber;Genomics England PanelApp;Radboud University Medical Center, Nijmegen	Choanal atresia		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Choanal atresia and lymphoedema, MIM#613611;MONDO:0013324				20826270;https://doi.org/10.1016/j.mgene.2017.07.006		False	2	0;100;0	1.6	True		ENSG00000152104	ENSG00000152104	HGNC:9647													
SEMA3E	gene	SEMA3E	Expert Review Red;Genomics England PanelApp;Radboud University Medical Center, Nijmegen	Choanal atresia		Dysmorphic and congenital abnormality syndromes	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARGE syndrome, MIM# 214800;MONDO:0008965				15235037;31691538;31464029		False	1	0;0;100	1.6	True		ENSG00000170381	ENSG00000170381	HGNC:10727