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
COL10A1	gene	COL10A1	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Metaphyseal chondrodysplasia, Schmid type 156500			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000123500	ENSG00000123500	HGNC:2185													
DNAJC21	gene	DNAJC21	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	617052 BONE MARROW FAILURE SYNDROME 3;BMFS3			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000168724	ENSG00000168724	HGNC:27030													
EFL1	gene	EFL1	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	SDS2;617941 SHWACHMAN-DIAMOND SYNDROME 2			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000140598	ENSG00000140598	HGNC:25789													
EXOC6B	gene	EXOC6B	Expert Review Green;Literature	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloepimetaphyseal dysplasia with joint laxity MONDO:0019675			Metaphyseal dysplasia;HP:0100255	26669664;30284759;36150098		False	3	100;0;0	0.5	True		ENSG00000144036	ENSG00000144036	HGNC:17085													
MMP13	gene	MMP13	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Metaphyseal anadysplasia 1 602111;Spondyloepimetaphyseal dysplasia, Missouri type 602111;Metaphyseal dysplasia, Spahr type - 250400			Metaphyseal dysplasia;HP:0100255	24648384		False	3	0;0;0	0.5	False		ENSG00000137745	ENSG00000137745	HGNC:7159													
MMP9	gene	MMP9	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	613073METAPHYSEAL ANADYSPLASIA 2			Metaphyseal dysplasia;HP:0100255	19615667		False	3	0;0;0	0.5	False		ENSG00000100985	ENSG00000100985	HGNC:7176													
POLR1D	gene	POLR1D	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Treacher Collins syndrome 2 613717			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000186184	ENSG00000186184	HGNC:20422													
PTH1R	gene	PTH1R	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Failure of tooth eruption, primary 125350;Eiken syndrome 600002;Chondrodysplasia, Blomstrand type 215045;Metaphyseal chondrodysplasia, Murk Jansen type 156400			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000160801	ENSG00000160801	HGNC:9608													
RMRP	gene	RMRP	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Metaphyseal dysplasia without hypotrichosis 250460;Cartilage-hair hypoplasia 250250;Anauxetic dysplasia 607095			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000269900	ENSG00000269900	HGNC:10031													
RUNX2	gene	RUNX2	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510;Cleidocranial dysplasia 119600;Cleidocranial dysplasia, forme fruste, dental anomalies only 119600;Cleidocranial dysplasia, forme fruste, with brachydactyly 119600			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000124813	ENSG00000124813	HGNC:10472													
SBDS	gene	SBDS	Expert Review Green;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	"Shwachman-Diamond syndrome 260400;Shwachman-Diamond syndrome	260400"			Metaphyseal dysplasia;HP:0100255			False	3	0;0;0	0.5	False		ENSG00000126524	ENSG00000126524	HGNC:19440													
SRP54	gene	SRP54	Expert Review Amber;Victorian Clinical Genetics Services	Metaphyseal dysplasias	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	SCN8;618752 NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT			Metaphyseal dysplasia;HP:0100255			False	2	0;100;0	0.5	True		ENSG00000100883	ENSG00000100883	HGNC:11301