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
CITED2	gene	CITED2	South West GLH	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrial septal defect 8;Ventricular septal defect 2						False	1	0;0;100	7.41	False		ENSG00000164442	ENSG00000164442	HGNC:1987													
CRELD1	gene	CRELD1	South West GLH	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrioventricular septal defect, partial, with heterotaxy syndrome;Atrioventricular septal defect, susceptibility to, 2						False	1	0;0;100	7.41	False		ENSG00000163703	ENSG00000163703	HGNC:14630													
DET1	gene	DET1	Literature	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	neurological defects and lethality				39937864		False	1	0;0;100	7.41	False		ENSG00000140543	ENSG00000140543	HGNC:25477													
DNAH11	gene	DNAH11	South West GLH	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 7, with or without situs inversus						False	1	0;100;0	7.41	False		ENSG00000105877	ENSG00000105877	HGNC:2942													
DNAH5	gene	DNAH5	South West GLH	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 3, with or without situs inversus						False	1	0;100;0	7.41	False		ENSG00000039139	ENSG00000039139	HGNC:2950													
DNAI1	gene	DNAI1	South West GLH	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 1, with or without situs inversus						False	1	0;100;0	7.41	False		ENSG00000122735	ENSG00000122735	HGNC:2954													
FOXH1	gene	FOXH1	South West GLH	Paediatric disorders - additional genes		Developmental disorders	Unknown							False	1	0;0;100	7.41	False		ENSG00000160973	ENSG00000160973	HGNC:3814													
GATA5	gene	GATA5	South West GLH	Paediatric disorders - additional genes		Developmental disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital heart defects, multiple types, 5						False	1	0;0;100	7.41	False		ENSG00000130700	ENSG00000130700	HGNC:15802													
NKX2-6	gene	NKX2-6	South West GLH	Paediatric disorders - additional genes		Developmental disorders	Unknown	Conotruncal heart malformations;Persistent truncus arteriosus						False	1	0;0;100	7.41	False		ENSG00000180053	ENSG00000180053	HGNC:32940													
PRDM6	gene	PRDM6	South West GLH	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Patent ductus arteriosus 3						False	1	0;0;100	7.41	False		ENSG00000061455	ENSG00000061455	HGNC:9350													
STK4	gene	STK4	South West GLH	Paediatric disorders - additional genes		Developmental disorders	BIALLELIC, autosomal or pseudoautosomal	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations				22294732;22174160		False	1	0;100;0	7.41	False		ENSG00000101109	ENSG00000101109	HGNC:11408													
TLL1	gene	TLL1	South West GLH	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrial septal defect 6						False	1	0;0;100	7.41	False		ENSG00000038295	ENSG00000038295	HGNC:11843													
VIM	gene	VIM	Literature	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	lipodystrophy HP:0009125;Craniofacial dysostosis HP:0004439;Thoracic scoliosis HP:0002943;amyotrophy				32066935		False	1	0;0;100	7.41	False		ENSG00000026025	ENSG00000026025	HGNC:12692													
ZFPM2	gene	ZFPM2	South West GLH	Paediatric disorders - additional genes		Developmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Tetralogy of Fallot, OMIM:187500						False	1	0;0;100	7.41	False		ENSG00000169946	ENSG00000169946	HGNC:16700