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
ALDH18A1	gene	ALDH18A1	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cutis laxa, autosomal dominant 3 (MIM# 616603);Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)				30071989;26320891;24913064;18478038;21739576;22411858;28228640		False	3	100;0;0	1.0	True		ENSG00000059573	ENSG00000059573	HGNC:9722													
ATP6V0A2	gene	ATP6V0A2	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIA MIM#219200;Wrinkly skin syndrome MIM#278250				23963297		False	3	100;0;0	1.0	True		ENSG00000185344	ENSG00000185344	HGNC:18481													
ATP6V1A	gene	ATP6V1A	Expert Review Amber;Expert Review Green;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IID MIM#617403				28065471		False	3	67;33;0	1.0	True		ENSG00000114573	ENSG00000114573	HGNC:851													
ATP6V1E1	gene	ATP6V1E1	Expert list;Expert Review Green	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIC MIM#617402				28065471;27023906		False	3	100;0;0	1.0	True		ENSG00000131100	ENSG00000131100	HGNC:857													
ATP7A	gene	ATP7A	Expert list;Expert Review Green;GeneReviews	Cutis Laxa		Dermatological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Occipital horn syndrome, MIM#304150;Menkes disease, MIM#309400						False	3	100;0;0	1.0	True		ENSG00000165240	ENSG00000165240	HGNC:869													
EFEMP2	gene	EFEMP2	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IB MIM#614437				20389311;19664000;16685658;17937443;22943132;22440127		False	3	100;0;0	1.0	True		ENSG00000172638	ENSG00000172638	HGNC:3219													
ELN	gene	ELN	Expert Review Green;GeneReviews;Other	Cutis Laxa		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Cutis laxa, autosomal dominant MIM#123700				27866049;31560829;19844261;19844261		False	3	100;0;0	1.0	True		ENSG00000049540	ENSG00000049540	HGNC:3327													
FBLN5	gene	FBLN5	Expert list;Expert Review Green;GeneReviews	Cutis Laxa		Dermatological disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IA MIM#219100;Cutis laxa, autosomal dominant 2 MIM#614434				3232707;22829427;11805835		False	3	100;0;0	1.0	True		ENSG00000140092	ENSG00000140092	HGNC:3602													
GORAB	gene	GORAB	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Geroderma osteodysplasticum MIM#231070				18997784;19681135		False	3	0;100;0	1.0	True		ENSG00000120370	ENSG00000120370	HGNC:25676													
LTBP1	gene	LTBP1	Expert Review Green;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIE MIM#619451				33991472		False	3	100;0;0	1.0	True		ENSG00000049323	ENSG00000049323	HGNC:6714													
LTBP4	gene	LTBP4	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IC MIM#613177				22829427		False	3	100;0;0	1.0	True		ENSG00000090006	ENSG00000090006	HGNC:6717													
PTDSS1	gene	PTDSS1	Expert list;Expert Review Green;GeneReviews	Cutis Laxa		Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lenz-Majewski hyperostotic dwarfism MIM#151050				24241535;29341480;31403251		False	3	100;0;0	1.0	True		ENSG00000156471	ENSG00000156471	HGNC:9587													
PYCR1	gene	PYCR1	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Cutis laxa, autosomal recessive, type IIB MIM#612940;Cutis laxa, autosomal recessive, type IIIB MIM#614438				19648921;4076251;22052856;19576563;19648921;9648921;22052856;28294978;27756598		False	3	100;0;0	1.0	True		ENSG00000183010	ENSG00000183010	HGNC:9721													
RIN2	gene	RIN2	Expert Review Green;GeneReviews;Literature	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075				19631308;20424861;23963297;24449201		False	3	100;0;0	1.0	True		ENSG00000132669	ENSG00000132669	HGNC:18750													
SLC2A10	gene	SLC2A10	Expert Review Green;GeneReviews	Cutis Laxa		Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Arterial tortuosity syndrome MIM#208050				30071989;16550171;17935213		False	3	100;0;0	1.0	True		ENSG00000197496	ENSG00000197496	HGNC:13444