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
CPAP	gene	CPAP	Expert Review Amber;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 4, MIM# 613676			Failure to thrive;HP:0001508; Growth delay;HP:0001510	20522431;23166506		False	2	0;100;0	2.0	True		ENSG00000151849	ENSG00000151849	HGNC:17272													
DCAF15	gene	DCAF15	Expert Review Amber;Other	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related			Failure to thrive;HP:0001508; Growth delay;HP:0001510			False	2	0;100;0	2.0	True		ENSG00000132017	ENSG00000132017	HGNC:25095													
ERBB2	gene	ERBB2	Expert Review Amber;Victorian Clinical Genetics Services	Growth failure			BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Congenital heart disease - left ventricular outflow tract obstruction defects;MONDO:0005453;Hirschsprung disease (HSCR, aganglionic megacolon, MIM#142623)			Failure to thrive;HP:0001508; Growth delay;HP:0001510	40329538;33720042		False	2	0;100;0	2.0	False		ENSG00000141736	ENSG00000141736	HGNC:3430													
NLRP2	gene	NLRP2	Expert Review Amber;Genomics England PanelApp	Growth failure			Other	Maternal effect gene- causing phenotypes that include IUGR			Failure to thrive;HP:0001508; Growth delay;HP:0001510	30877238;33090377;29574422;26323243;19300480		False	2	0;100;0	2.0	True		ENSG00000022556	ENSG00000022556	HGNC:22948													
NLRP5	gene	NLRP5	Expert Review Amber;Genomics England PanelApp	Growth failure			Other	Short stature;Failure to thrive;multilocus imprinting disturbances;IUGR			Failure to thrive;HP:0001508; Growth delay;HP:0001510	26323243;29574422		False	2	0;100;0	2.0	True		ENSG00000171487	ENSG00000171487	HGNC:21269													
NLRP7	gene	NLRP7	Expert Review Amber;Genomics England PanelApp	Growth failure			Other	IUGR			Failure to thrive;HP:0001508; Growth delay;HP:0001510	28561018		False	2	0;100;0	2.0	True		ENSG00000167634	ENSG00000167634	HGNC:22947													
NSMCE2	gene	NSMCE2	Expert Review Amber;Literature	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 10, MONDO:0014991			Failure to thrive;HP:0001508; Growth delay;HP:0001510	25105364		False	2	0;100;0	2.0	True		ENSG00000156831	ENSG00000156831	HGNC:26513													
PADI6	gene	PADI6	Expert Review Amber;Genomics England PanelApp	Growth failure			Other	IUGR			Failure to thrive;HP:0001508; Growth delay;HP:0001510	33221824;32928291;29574422		False	2	0;100;0	2.0	True		-	ENSG00000276747	HGNC:20449													
PFAS	gene	PFAS	Expert Review Amber;Literature	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Inborn error of metabolism, MONDO:0019052, PFAS-related			Failure to thrive;HP:0001508; Growth delay;HP:0001510	40421664		False	2	0;100;0	2.0	True		ENSG00000178921	ENSG00000178921	HGNC:8863													
RAP1B	gene	RAP1B	Expert Review Amber;Genomics England PanelApp	Growth failure			MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654			Failure to thrive;HP:0001508; Growth delay;HP:0001510	26280580;32627184		False	2	0;100;0	2.0	True		ENSG00000127314	ENSG00000127314	HGNC:9857													
RBBP8	gene	RBBP8	Expert Review Amber;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Seckel syndrome 2, MIM# 606744			Failure to thrive;HP:0001508; Growth delay;HP:0001510	24389050;21998596		False	2	0;100;0	2.0	True		ENSG00000101773	ENSG00000101773	HGNC:9891													
TKT	gene	TKT	Expert list;Expert Review Amber	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Short stature, developmental delay, and congenital heart defects;OMIM #617044			Failure to thrive;HP:0001508; Growth delay;HP:0001510	27259054		False	2	0;100;0	2.0	True		ENSG00000163931	ENSG00000163931	HGNC:11834													
ZNF668	gene	ZNF668	Expert Review Amber;Literature	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194			Failure to thrive;HP:0001508; Growth delay;HP:0001510	34313816;26633546		False	2	0;100;0	2.0	True		ENSG00000167394	ENSG00000167394	HGNC:25821													
ZPR1	gene	ZPR1	Expert Review Amber;Genomics England PanelApp	Growth failure			BIALLELIC, autosomal or pseudoautosomal	Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, MIM# 619321			Failure to thrive;HP:0001508; Growth delay;HP:0001510	29851065;40776660		False	2	0;100;0	2.0	True		ENSG00000109917	ENSG00000109917	HGNC:13051