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
B3GALT6	gene	B3GALT6	Emory Genetics Laboratory;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, progeroid type, 2 615349;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000176022	ENSG00000176022	HGNC:17978													
B3GAT3	gene	B3GAT3	Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600;Larsen alike phenotype  (skd incl)	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000149541	ENSG00000149541	HGNC:923													
CANT1	gene	CANT1	Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;UKGTN;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	multiple epiphyseal dysplasia type 7, 617719.;Desbuquois dysplasia 1 251450	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000171302	ENSG00000171302	HGNC:19721													
CHST14	gene	CHST14	Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Ehlers-Danlos syndrome, musculocontractural type 1 601776	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000169105	ENSG00000169105	HGNC:24464													
CHST3	gene	CHST3	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive Larsen syndrome) 143095	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000122863	ENSG00000122863	HGNC:1971													
CSGALNACT1	gene	CSGALNACT1	Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	31705726;31325655		False	3	100;0;0	0.9	True		ENSG00000147408	ENSG00000147408	HGNC:24290													
EXOC6B	gene	EXOC6B	Expert Review Green;Literature;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 618395	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	26669664;30284759;36150098		False	3	100;0;0	0.9	True		ENSG00000144036	ENSG00000144036	HGNC:17085													
FKBP14	gene	FKBP14	Expert Review Green;Literature;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS 614557	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	28617417;22265013		False	3	100;0;0	0.9	False		ENSG00000106080	ENSG00000106080	HGNC:18625													
FLNA	gene	FLNA	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Otopalatodigital syndrome, type II -304120;Melnick Needles syndrome 309350;Osteodysplasty Melnick Needles 309350 XLD;Frontometaphyseal dysplasia 305620 XLR;Terminal osseous dysplasia 300244;Otopalatodigital syndrome, type I -311300;Otopalatodigital syndrome, type II 304120 XLD;Frontometaphyseal dysplasia 305620	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000196924	ENSG00000196924	HGNC:3754													
FLNB	gene	FLNB	Expert Review Green;NHS GMS;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Atelosteogenesis, type I 108720;Atelosteogenesis, type III 108721;Larsen syndrome 150250;Spondylocarpotarsal synostosis syndrome 272460;Boomerang dysplasia 112310	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000136068	ENSG00000136068	HGNC:3755													
GZF1	gene	GZF1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Joint laxity, short stature, and myopia, MIM# 617662;Larsen-like syndrome	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	28475863;33009817		False	3	100;0;0	0.9	True		ENSG00000125812	ENSG00000125812	HGNC:15808													
KIF22	gene	KIF22	Emory Genetics Laboratory;Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388			False	3	100;0;0	0.9	False		ENSG00000079616	ENSG00000079616	HGNC:6391													
PLOD1	gene	PLOD1	Expert Review Green;Literature;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 1 225400	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	1345174;11001813		False	3	100;0;0	0.9	False		ENSG00000083444	ENSG00000083444	HGNC:9081													
SLC10A7	gene	SLC10A7	Expert Review Green;Literature;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 618363;skeletal dysplasia and amelogenesis imperfecta	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	30082715		False	3	100;0;0	0.9	False		ENSG00000120519	ENSG00000120519	HGNC:23088													
XYLT1	gene	XYLT1	Expert Review Green;VCGS Expert Review Green;Victorian Clinical Genetics Services	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	DESBUQUOIS DYSPLASIA 2 615777	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	23982343;24581741		False	3	100;0;0	0.9	False		ENSG00000103489	ENSG00000103489	HGNC:15516													
FAM20B	gene	FAM20B	Expert Review Amber;Literature	Multiple joint dislocations and laxity	Skeletal dysplasias	Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	FAM20B GLYCOSAMINOGLYCAN XYLOSYLKINASE 611063	617662		Joint dislocation;HP:0001373; Joint laxity;HP:0001388	30847897		False	2	0;0;0	0.9	False		ENSG00000116199	ENSG00000116199	HGNC:23017