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
ACAN	gene	ACAN	Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis				24762113 		False	1	100;0;0	1.70	True		ENSG00000157766	ENSG00000157766	HGNC:319													
ATRIP	gene	ATRIP	Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	microcephaly, micrognathia, small ear lobes, dental crowding				23144622		False	1	100;0;0	1.70	True		ENSG00000164053	ENSG00000164053	HGNC:33499													
ATRX	gene	ATRX	Emory Genetics Laboratory;Expert Review Red	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders		SGA, which is sometimes called intrauterine growth restriction (IUGR),						False	1	0;25;75	1.70	True		ENSG00000085224	ENSG00000085224	HGNC:886													
BTK	gene	BTK	Emory Genetics Laboratory;Expert Review Red	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders								False	1	100;0;0	1.70	True		ENSG00000010671	ENSG00000010671	HGNC:1133													
DNA2	gene	DNA2	Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	seckel syndrome				PMC3912419		False	1	100;0;0	1.70	True		ENSG00000138346	ENSG00000138346	HGNC:2939													
DOK7	gene	DOK7	Expert Review Red;Radboud University Medical Center, Nijmegen	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders		Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150						False	1	0;0;100	1.70	True		ENSG00000175920	ENSG00000175920	HGNC:26594													
EPHX1	gene	EPHX1	Expert Review Red;Radboud University Medical Center, Nijmegen	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders		?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800						False	1	0;0;100	1.70	True		ENSG00000143819	ENSG00000143819	HGNC:3401													
FANCM	gene	FANCM	Expert review;Expert Review Red	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi Anemia;Fanconi anemia, complementation group M, 614087;Fanconi anemia				16116422;19423727;25078778		False	1	0;0;0	1.70	False		ENSG00000187790	ENSG00000187790	HGNC:23168													
GHSR	gene	GHSR	Expert Review;Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Idiopathic short stature, GH deficiency				16511605		False	1	0;0;100	1.70	True		ENSG00000121853	ENSG00000121853	HGNC:4267													
GPR161	gene	GPR161	Expert Review;Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	 Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk				25322266		False	1	0;0;100	1.70	True		ENSG00000143147	ENSG00000143147	HGNC:23694													
H19	gene	H19	Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	Other - please specifiy in evaluation comments	Russell-Silver syndrome						False	1	0;0;0	1.70	True		ENSG00000130600	ENSG00000130600	HGNC:4713													
IFT172	gene	IFT172	Expert Review;Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	GH deficiency, retinopathy, metaphyseal dysplasia				25664603		False	1	0;0;100	1.70	True		ENSG00000138002	ENSG00000138002	HGNC:30391													
IGF2	gene	IGF2	Expert Review;Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Pre- and post-natal growth failure; Silver-Russell phenptype;IUGR				26154720		False	1	100;0;0	1.70	True		ENSG00000167244	ENSG00000167244	HGNC:5466													
LIG1	gene	LIG1	Expert Review Red;Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	immunodeficiency, sun sensitivity, growth reatrdation				1581963, 1351188		False	1	100;0;0	1.70	True		ENSG00000105486	ENSG00000105486	HGNC:6598													
MCM5	gene	MCM5	Literature	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	"?Meier-Gorlin syndrome 8	617564"				28198391		False	1	0;0;100	1.70	False		ENSG00000100297	ENSG00000100297	HGNC:6948													
RAPSN	gene	RAPSN	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders	BIALLELIC, autosomal or pseudoautosomal	Fetal Akinesia Deformation Sequence;Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150						False	1	0;0;100	1.70	True		ENSG00000165917	ENSG00000165917	HGNC:9863													
SHOX2	gene	SHOX2	Emory Genetics Laboratory;Expert Review Red	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders								False	1	0;0;100	1.70	True		ENSG00000168779	ENSG00000168779	HGNC:10854													
SMARCAL1	gene	SMARCAL1	Emory Genetics Laboratory;Expert Review Red	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders								False	1	0;0;100	1.70	True		ENSG00000138375	ENSG00000138375	HGNC:11102													
THRB	gene	THRB	Emory Genetics Laboratory;Expert Review Red	IUGR and IGF abnormalities	Growth hormone disorders	Endocrine disorders								False	1	0;0;100	1.70	True		ENSG00000151090	ENSG00000151090	HGNC:11799