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
CFAP57	gene	CFAP57	Expert Review Amber;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Van der Woude Syndrome;Primary ciliary dyskinesia				21574244;32764743		False	2	0;100;0	1.77	True		ENSG00000243710	ENSG00000243710	HGNC:26485													
DNAH1	gene	DNAH1	ClinGen;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia 7, MONDO:0012748				25927852, 31765523, 33577779, 34210339		False	2	0;100;0	1.77	True		ENSG00000114841	ENSG00000114841	HGNC:2940													
DNAL1	gene	DNAL1	Expert Review Amber;Victorian Clinical Genetics Services	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 16, MIM# 614017				21496787		False	2	0;100;0	1.77	True		ENSG00000119661	ENSG00000119661	HGNC:23247													
NFKB1	gene	NFKB1	Expert list;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Immunodeficiency, common variable, 12	616576"				PMID: 32278790		False	2	0;100;0	1.77	True		ENSG00000109320	ENSG00000109320	HGNC:7794													
NFKB2	gene	NFKB2	Expert list;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Immunodeficiency, common variable, 10	615577"				PMID: 30941118		False	2	0;100;0	1.77	True		ENSG00000077150	ENSG00000077150	HGNC:7795													
PIK3CD	gene	PIK3CD	Expert list;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Immunodeficiency 14	615513"				PMID: 30018075;31111319		False	2	0;100;0	1.77	True	Other	ENSG00000171608	ENSG00000171608	HGNC:8977													
PIK3R1	gene	PIK3R1	Expert list;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	"?Agammaglobulinemia 7, autosomal recessive	615214;Immunodeficiency 36	616005;SHORT syndrome	269880"				PMID: 30018075;31111319		False	2	0;100;0	1.77	True	Other	ENSG00000145675	ENSG00000145675	HGNC:8979													
SCNN1A	gene	SCNN1A	Expert Review;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021);MONDO:0013087				22207244;19017867;19462466		False	2	50;50;0	1.77	True		ENSG00000111319	ENSG00000111319	HGNC:10599													
SCNN1B	gene	SCNN1B	Expert Review;Expert Review Amber	Ciliary Dyskinesia		Respiratory disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)				22207244;16207733;18507830		False	2	50;50;0	1.77	True		ENSG00000168447	ENSG00000168447	HGNC:10600													
SPEF2	gene	SPEF2	Expert Review Amber;Literature	Ciliary Dyskinesia		Respiratory disorders	BIALLELIC, autosomal or pseudoautosomal	Spermatogenic failure 43, MIM#618751;Primary ciliary dyskinesia-like phenotype				31151990;31278745;31048344;31942643		False	2	0;100;0	1.77	True		ENSG00000152582	ENSG00000152582	HGNC:26293