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
AK7	gene	AK7	ClinGen;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia, MONDO:0016575						False	1	0;0;100	1.77	True		ENSG00000140057	ENSG00000140057	HGNC:20091													
AKNA	gene	AKNA	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia, MONDO:0016575, AKNA-related				PMID: 21606955		False	1	0;0;100	1.77	True		ENSG00000106948	ENSG00000106948	HGNC:24108													
BRWD1	gene	BRWD1	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 51, MIM# 620438				33389130		False	1	50;0;50	1.77	True		ENSG00000185658	ENSG00000185658	HGNC:12760													
CFAP43	gene	CFAP43	Expert Review;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	"Hydrocephalus, normal pressure, 1	236690;Spermatogenic failure 19	617592"				PMID: 31884020;28552195;31004071;29449551		False	1	50;0;50	1.77	True		ENSG00000197748	ENSG00000197748	HGNC:26684													
DNAH14	gene	DNAH14	ClinGen;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia, MONDO:0016575						False	1	0;0;100	1.77	True		ENSG00000185842	ENSG00000185842	HGNC:2945													
DNAH6	gene	DNAH6	Expert list;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Primary ciliary dyskinesia, MONDO:0016575				PMID: 26918822;28206990;31676830;29356036		False	1	0;50;50	1.77	True		ENSG00000115423	ENSG00000115423	HGNC:2951													
DNAH8	gene	DNAH8	ClinGen;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia, MONDO:0016575, DNAH8-related				24307375		False	1	0;50;50	1.77	True		ENSG00000124721	ENSG00000124721	HGNC:2952													
GOLGA3	gene	GOLGA3	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia MONDO:0016575, GOLGA3-related				PMID: 23495255;32367404		False	1	0;0;100	1.77	True		ENSG00000090615	ENSG00000090615	HGNC:4426													
ITCH	gene	ITCH	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	"Autoimmune disease, multisystem, with facial dysmorphism	613385;primary ciliary dyskinesia"				20170897;32367404		False	1	0;0;100	1.77	True		ENSG00000078747	ENSG00000078747	HGNC:13890													
NME8	gene	NME8	Expert Review Red;Victorian Clinical Genetics Services	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 6, MIM# 610852				17360648		False	1	0;0;100	1.77	True		ENSG00000086288	ENSG00000086288	HGNC:16473													
SCNN1G	gene	SCNN1G	Expert list;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"Bronchiectasis with or without elevated sweat chloride 3, MIM#	613071"				29997923;30801930;18507830		False	1	50;0;50	1.77	True		ENSG00000166828	ENSG00000166828	HGNC:10602													
STK36	gene	STK36	Expert list;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 46, MIM# 619436				28543983		False	1	0;0;100	1.77	True		ENSG00000163482	ENSG00000163482	HGNC:17209													
TEKT1	gene	TEKT1	ClinGen;Expert Review Red	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia, MONDO:0016575						False	1	0;0;100	1.77	True		ENSG00000167858	ENSG00000167858	HGNC:15534