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
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	1.40	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	1.40	True		ENSG00000185658	ENSG00000185658	HGNC:12760													
CFAP221	gene	CFAP221	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia				PMID: 31636325		False	1	0;0;100	1.40	True		ENSG00000163075	ENSG00000163075	HGNC:33720													
CFAP54	gene	CFAP54	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrocephalus, male infertility, mucus accumulation				PMID: 26224312		False	1	0;0;100	1.40	True		ENSG00000188596	ENSG00000188596	HGNC:26456													
GOLGA3	gene	GOLGA3	Expert Review Red;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia				PMID: 23495255;32367404		False	1	0;0;100	1.40	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	1.40	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	1.40	True		ENSG00000086288	ENSG00000086288	HGNC:16473													
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	1.40	True		ENSG00000163482	ENSG00000163482	HGNC:17209