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
AGRN	gene	AGRN	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fetal akinesia deformation sequence, MONDO:0008824				31730230;39807604		False	2	0;0;100	9.32	False		ENSG00000188157	ENSG00000188157	HGNC:329													
ATAD1	gene	ATAD1	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Hyperekplexia 4, 618011				29659736;28180185;29390050		False	2	0;100;0	9.32	False		ENSG00000138138	ENSG00000138138	HGNC:25903													
BORCS5	gene	BORCS5	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	arthrogryposis multiplex congenita, MONDO:0015168;neurodevelopmental disorder, MONDO:0700092				27435318;40385417;40621786		False	2	100;0;0	9.32	False		ENSG00000165714	ENSG00000165714	HGNC:17950													
CIAO1	gene	CIAO1	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960				38950322		False	2	50;50;0	9.32	False		ENSG00000144021	ENSG00000144021	HGNC:14280													
CNTN1	gene	CNTN1	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myopathy, congenital, Compton-North, OMIM:612540				19026398;32779773		False	2	0;50;50	9.32	False		ENSG00000018236	ENSG00000018236	HGNC:2171													
DDR2	gene	DDR2	Expert Review Amber;Literature	Arthrogryposis		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Warburg-Cinotti syndrome, OMIM:618175				30449416		False	2	100;0;0	9.32	False		ENSG00000162733	ENSG00000162733	HGNC:2731													
DPM2	gene	DPM2	Emory Genetics Laboratory;Expert list;Expert Review Amber	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Iu, OMIM:615042				23109149		False	2	0;100;0	9.32	False		ENSG00000136908	ENSG00000136908	HGNC:3006													
MYLPF	gene	MYLPF	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, distal, type 1C, OMIM:619110;Arthrogryposis, distal, type 1C, MONDO:0030847				32707087		False	2	0;100;0	9.32	False		ENSG00000180209	ENSG00000180209	HGNC:29824													
MYOD1	gene	MYOD1	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975				26733463;30403323;31260566		False	2	100;0;0	9.32	False		ENSG00000129152	ENSG00000129152	HGNC:7611													
NRDC	gene	NRDC	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder, MONDO:0700092				41734767		False	2	100;0;0	9.32	False		ENSG00000078618	ENSG00000078618	HGNC:7995													
NUP88	gene	NUP88	Expert list;Expert Review Amber	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Fetal akinesia deformation sequence 4, OMIM:618393;Fetal akinesia deformation sequence 4, MONDO:0100104				30543681		False	2	100;0;0	9.32	False		ENSG00000108559	ENSG00000108559	HGNC:8067													
SCYL2	gene	SCYL2	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766;Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MONDO:0032903				31960134;26203146		False	2	0;100;0	9.32	False		ENSG00000136021	ENSG00000136021	HGNC:19286													
SENP7	gene	SENP7	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	arthrogryposis multiplex congenita, MONDO:0015168				37460201;38972567;39763084		False	2	100;0;0	9.32	False		ENSG00000138468	ENSG00000138468	HGNC:30402													
SVIL	gene	SVIL	Expert Review Amber;NHS GMS	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620				32779703		False	2	0;100;0	9.32	False		ENSG00000197321	ENSG00000197321	HGNC:11480													
TRIP4	gene	TRIP4	Expert Review Amber;Literature	Arthrogryposis		Neurology	BIALLELIC, autosomal or pseudoautosomal	Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866;Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209;Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806				26924529		False	2	50;50;0	9.32	False		ENSG00000103671	ENSG00000103671	HGNC:12310