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
MBTPS2	gene	MBTPS2	Expert list;Expert Review Amber	Osteogenesis imperfecta		Musculoskeletal	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Osteogenesis imperfecta, type XIX, OMIM:301014;osteogenesis imperfecta, type 19, MONDO:0049223				27380894;34093655		False	2	25;75;0	5.5	False		ENSG00000012174	ENSG00000012174	HGNC:15455													
NUDT6	gene	NUDT6	Expert list;Expert Review Amber;NHS GMS	Osteogenesis imperfecta		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	recurrent fractures, accompanied with other skeletal manifestations including short-limb dwarfism, mild frontal bossing, bowing of legs and scoliosis.				Essawi et al A homozygous missense variant in NUDT6 is responsible for an autosomal recessive form of osteogenesis imperfecta.		False	2	0;100;0	5.5	False		ENSG00000170917	ENSG00000170917	HGNC:8053													
SGMS2	gene	SGMS2	Expert list;Expert Review Amber	Osteogenesis imperfecta		Musculoskeletal	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550;calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470				30779713;32028018		False	2	50;50;0	5.5	False		ENSG00000164023	ENSG00000164023	HGNC:28395													
SUCO	gene	SUCO	Expert Review Amber;Literature	Osteogenesis imperfecta		Musculoskeletal	BIALLELIC, autosomal or pseudoautosomal	Osteogenesis imperfecta, MONDO:0019019;skeletal dysplasia, HP:0002652;osteopenia				29620724;20440000		False	2	0;100;0	5.5	False		ENSG00000094975	ENSG00000094975	HGNC:1240