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
FOXH1	gene	FOXH1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS	Holoprosencephaly - NOT chromosomal		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly				27363716		False	1	0;100;0	5.11	False		ENSG00000160973	ENSG00000160973	HGNC:3814													
GCM2	gene	GCM2	Expert Review Red;NHS GMS;Other;UKGTN	Holoprosencephaly - NOT chromosomal		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Hypoparathyroidism, familial isolated (AD)						False	1	0;0;100	5.11	False		ENSG00000124827	ENSG00000124827	HGNC:4198													
NODAL	gene	NODAL	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS	Holoprosencephaly - NOT chromosomal		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Holoprosencephaly				27363716		False	1	0;100;0	5.11	False		ENSG00000156574	ENSG00000156574	HGNC:7865													
SMAD2	gene	SMAD2	Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen	Holoprosencephaly - NOT chromosomal		Neurology	Unknown	Unknown				(Roessler (2008) Am J Hum Genet 83,18) 18538293		False	1	0;0;100	5.11	False		ENSG00000175387	ENSG00000175387	HGNC:6768