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 Review Amber;Literature	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Fetal akinesia sequence			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	31730230		False	2	0;100;0	1.5	True		ENSG00000188157	ENSG00000188157	HGNC:329													
CHRNE	gene	CHRNE	Expert Review Amber;Victorian Clinical Genetics Services	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Congenital myasthenia, multiple types			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989			False	2	0;100;0	1.5	True		ENSG00000108556	ENSG00000108556	HGNC:1966													
COLQ	gene	COLQ	Expert Review Amber;Victorian Clinical Genetics Services	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 5, MIM# 603034			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	9689136;9758617;11865139;32978031;31831253		False	2	0;100;0	1.5	True		ENSG00000206561	ENSG00000206561	HGNC:2226													
ERBB3	gene	ERBB3	Expert Review Amber;Literature	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contractural syndrome 2, MIM# 607598			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	17701904;31752936		False	2	0;100;0	1.5	True		ENSG00000065361	ENSG00000065361	HGNC:3431													
KIF21A	gene	KIF21A	Expert Review Amber;Literature	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Severe fetal akinesia with arthrogryposis multiplex			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	PMID: 34740919		False	2	0;100;0	1.5	False		ENSG00000139116	ENSG00000139116	HGNC:19349													
MYBPC1	gene	MYBPC1	Expert Review;Expert Review Amber	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Lethal congenital contracture syndrome 4, MIM#	614915"			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	22610851;23873045		False	2	0;100;0	1.5	True		ENSG00000196091	ENSG00000196091	HGNC:7549													
NEK9	gene	NEK9	Expert Review Amber;Literature	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	Lethal congenital contracture syndrome 10, MIM# 617022			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	26908619		False	2	0;100;0	1.5	True		ENSG00000119638	ENSG00000119638	HGNC:18591													
ZBTB42	gene	ZBTB42	Expert Review;Expert Review Amber	Multiple pterygium syndrome_Fetal akinesia sequence		Dysmorphic and congenital abnormality syndromes	BIALLELIC, autosomal or pseudoautosomal	"Lethal congenital contracture syndrome 6, MIM#	616248"			Pterygium;HP:0001059; Akinesia;HP:0002304; Fetal akinesia sequence;HP:0001989	25055871		False	2	0;100;0	1.5	True		ENSG00000179627	ENSG00000179627	HGNC:32550