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
ATRIP	gene	ATRIP	Expert Review Red;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Seckel-like syndrome			Failure to thrive;HP:0001508; Growth delay;HP:0001510	23144622		False	1	0;0;100	1.76	True		ENSG00000164053	ENSG00000164053	HGNC:33499													
CDC6	gene	CDC6	Expert Review Red;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 5 (MIM#613805)			Failure to thrive;HP:0001508; Growth delay;HP:0001510	21358632		False	1	0;0;100	1.76	True		ENSG00000094804	ENSG00000094804	HGNC:1744													
FANCM	gene	FANCM	Expert Review Red;Genomics England PanelApp;Victorian Clinical Genetics Services	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Fanconi anaemia			Failure to thrive;HP:0001508; Growth delay;HP:0001510	16116422;25078778;19423727		False	1	0;0;100	1.76	True		ENSG00000187790	ENSG00000187790	HGNC:23168													
GINS2	gene	GINS2	Expert Review Red;Literature	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome with craniosynostosis			Failure to thrive;HP:0001508; Growth delay;HP:0001510	34353863		False	1	0;0;100	1.76	True		ENSG00000131153	ENSG00000131153	HGNC:24575													
GPR161	gene	GPR161	Expert Review Red;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Pituitary stalk interruption syndrome			Failure to thrive;HP:0001508; Growth delay;HP:0001510	25322266		False	1	0;0;100	1.76	True		ENSG00000143147	ENSG00000143147	HGNC:23694													
H19	gene	H19	Expert Review Red;Genomics England PanelApp	Growth failure			MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Silver-Russell syndrome, MIM# 180860			Failure to thrive;HP:0001508; Growth delay;HP:0001510			False	1	0;0;100	1.76	True		ENSG00000130600	ENSG00000130600	HGNC:4713													
IFT172	gene	IFT172	Expert Review Red;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	GH deficiency, retinopathy, metaphyseal dysplasia			Failure to thrive;HP:0001508; Growth delay;HP:0001510	25664603		False	1	0;0;100	1.76	True		ENSG00000138002	ENSG00000138002	HGNC:30391													
KHDC3L	gene	KHDC3L	Expert Review Red;Genomics England PanelApp	Growth failure			Other	Silver-Russell syndrome			Failure to thrive;HP:0001508; Growth delay;HP:0001510	29574422		False	1	0;0;100	1.76	True		ENSG00000203908	ENSG00000203908	HGNC:33699													
MCM5	gene	MCM5	Expert Review Red;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Meier-Gorlin syndrome 8 (MIM#617564)			Failure to thrive;HP:0001508; Growth delay;HP:0001510	28198391		False	1	0;0;100	1.76	True		ENSG00000100297	ENSG00000100297	HGNC:6948													
PROKR2	gene	PROKR2	Expert Review Red;Genomics England PanelApp	Growth failure			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200;Kallmann syndrome (KS);normosmic idiopathic hypogonadotropic hypogonadism (nIHH);Anosmia;GnRH deficiency;cleft lip and palate;renal agenesis;Hypogonadotropic hypogonadism;low testosterone/ estradiol;Absent/ partial Puberty;Hearing loss			Failure to thrive;HP:0001508; Growth delay;HP:0001510	22319038;18559922;29161432;17054399		False	1	0;0;100	1.76	True		ENSG00000101292	ENSG00000101292	HGNC:15836													
SHOX2	gene	SHOX2	Expert Review Red;Genomics England PanelApp	Growth failure			MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sinus Node Dysfunction;Atrial Fibrillation			Failure to thrive;HP:0001508; Growth delay;HP:0001510	30443179;16537395;16537395		False	1	0;0;100	1.76	True		ENSG00000168779	ENSG00000168779	HGNC:10854													
SLC30A7	gene	SLC30A7	Expert Review;Expert Review Red	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Ziegler-Huang syndrome, MIM# 620501			Failure to thrive;HP:0001508; Growth delay;HP:0001510	36821639		False	1	0;0;100	1.76	True		ENSG00000162695	ENSG00000162695	HGNC:19306													
SOX3	gene	SOX3	Expert Review Red;Genomics England PanelApp	Growth failure			X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mental retardation, X-linked, with isolated growth hormone deficiency, MIM#300123;Panhypopituitarism, X-linked, MIM#312000			Failure to thrive;HP:0001508; Growth delay;HP:0001510	15800844;29175558;30125608;12428212		False	1	0;0;100	1.76	True	Other - please provide details in the comments	ENSG00000134595	ENSG00000134595	HGNC:11199													
ZPR1	gene	ZPR1	Expert Review Red;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies, MIM# 619321			Failure to thrive;HP:0001508; Growth delay;HP:0001510	29851065		False	1	0;0;100	1.76	True		ENSG00000109917	ENSG00000109917	HGNC:13051													
