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
CCDC186	gene	CCDC186	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	failure to thrive and developmental delay				33259146;28600779		False	2	0;100;0	1.31	False		ENSG00000165813	ENSG00000165813	HGNC:24349													
FOXP4	gene	FOXP4	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurodevelopmental disorder;multiple congenital abnormalities				33110267		False	2	0;100;0	1.31	False		ENSG00000137166	ENSG00000137166	HGNC:20842													
GGPS1	gene	GGPS1	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518				32403198		False	2	100;0;0	1.31	False		ENSG00000152904	ENSG00000152904	HGNC:4249													
KDM3B	gene	KDM3B	Expert Review Amber;Victorian Clinical Genetics Services	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012				30929739		False	2	50;50;0	1.31	False		ENSG00000120733	ENSG00000120733	HGNC:1337													
LRRC8C	gene	LRRC8C	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	TIMES syndrome, OMIM:621056				39623139		False	2	0;100;0	1.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000171488	ENSG00000171488	HGNC:25075													
MAPK1	gene	MAPK1	Expert Review;Expert Review Amber	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 13, OMIM:619087				32721402		False	2	100;0;0	1.31	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000100030	ENSG00000100030	HGNC:6871													
MRAS	gene	MRAS	Expert Review;Expert Review Amber	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Noonan syndrome 11, OMIM:618499				28289718;31173466;31108500;34080768		False	2	100;0;0	1.31	False		ENSG00000158186	ENSG00000158186	HGNC:7227													
NF1	gene	NF1	Expert list;Expert Review Amber	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neurofibromatosis-Noonan syndrome, OMIM:601321				26178382;27247625;30602027;35633639;36373817		False	2	0;0;0	1.31	False		ENSG00000196712	ENSG00000196712	HGNC:7765													
NLRP2	gene	NLRP2	Expert list;Expert Review Amber	Monogenic short stature		Endocrinology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Oocyte/zygote/embryo maturation arrest 18, OMIM:620332;oocyte/zygote/embryo maturation arrest 18, MONDO:0957230				26323243;29574422;19300480;30877238;33090377		False	2	0;100;0	1.31	False		ENSG00000022556	ENSG00000022556	HGNC:22948													
NLRP5	gene	NLRP5	Expert list;Expert Review Amber	Monogenic short stature		Endocrinology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Oocyte/zygote/embryo maturation arrest 19, OMIM:620333;oocyte/zygote/embryo maturation arrest 19, MONDO:0957231				26323243;29574422		False	2	100;0;0	1.31	False		ENSG00000171487	ENSG00000171487	HGNC:21269													
NLRP7	gene	NLRP7	Expert list;Expert Review Amber	Monogenic short stature		Endocrinology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	"IUGR;Short stature;fetal wastage;Multi Locus Imprinting Disturbance;Hydatidiform mole, recurrent, 1	OMIM:231090;hydatidiform mole, recurrent, 1 MONDO:0009273"				28561018		False	2	100;0;0	1.31	False		ENSG00000167634	ENSG00000167634	HGNC:22947													
PADI6	gene	PADI6	Expert Review;Expert Review Amber	Monogenic short stature		Endocrinology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Short stature;IUGR;miscarriages in the family;Preimplantation embryonic lethality 2 OMIM:617234;preimplantation embryonic lethality 2 MONDO:0014978;Beckwith-Wiedemann syndrome;Multi Locus Imprinting Disturbance				32928291;29574422;33221824		False	2	100;0;0	1.31	False		ENSG00000256049	ENSG00000276747	HGNC:20449													
QSOX2	gene	QSOX2	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Maharaj Storr Syndrome				39341815		False	2	0;100;0	1.31	False		ENSG00000165661	ENSG00000165661	HGNC:30249													
RAD51	gene	RAD51	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Fanconi anemia, complementation group R, OMIM:617244				26681308;26253028;30907510		False	2	100;0;0	1.31	False		ENSG00000051180	ENSG00000051180	HGNC:9817													
RAP1B	gene	RAP1B	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Syndromic intellectual disability;short stature				32627184;26280580		False	2	0;100;0	1.31	False		ENSG00000127314	ENSG00000127314	HGNC:9857													
RASA2	gene	RASA2	Expert list;Expert Review Amber;NHS GMS	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome				25049390		False	2	0;0;0	1.31	False		ENSG00000155903	ENSG00000155903	HGNC:9872													
SETD5	gene	SETD5	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Intellectual developmental disorder, autosomal dominant 23, OMIM:615761				28881385		False	2	100;0;0	1.31	False		ENSG00000168137	ENSG00000168137	HGNC:25566													
SHOX	gene	SHOX	Expert Review Amber;NHS GMS	Monogenic short stature		Endocrinology	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Langer mesomelic dysplasia, OMIM:249700 (PR);Leri-Weill dyschondrosteosis, OMIM:127300 (PD);Short stature, idiopathic familial, OMIM:300582						False	2	0;100;0	1.31	False		ENSG00000185960	ENSG00000185960	HGNC:10853													
VPS50	gene	VPS50	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685				34037727		False	2	0;100;0	1.31	False		ENSG00000004766	ENSG00000004766	HGNC:25956													
ZNF668	gene	ZNF668	Expert Review Amber;Literature	Monogenic short stature		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194				34313816;26633546		False	2	0;100;0	1.31	False		ENSG00000167394	ENSG00000167394	HGNC:25821