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
AP1B1	gene	AP1B1	ClinGen;Expert Review Amber;Literature	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Keratitis-ichthyosis-deafness syndrome, autosomal recessive, OMIM:242150;KID syndrome, MONDO:0018781				31630791;33452671;33349978;32969855;35144013		False	2	100;0;0	4.12	False		ENSG00000100280	ENSG00000100280	HGNC:554													
DBR1	gene	DBR1	Expert Review Amber;Literature	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	ichthyosis, MONDO:0019269				37656279		False	2	0;100;0	4.12	False		ENSG00000138231	ENSG00000138231	HGNC:15594													
FAM83G	gene	FAM83G	Expert Review Amber	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Palmoplantar keratoderma with leukonychia and abundant curly hair				29138053;31656861;29963719		False	2	0;100;0	4.12	False		ENSG00000188522	ENSG00000188522	HGNC:32554													
KRT2	gene	KRT2	Expert Review Amber	Ichthyosis and erythrokeratoderma		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Ichthyosis bullosa of Siemens, OMIM:146800						False	2	0;100;0	4.12	False		ENSG00000172867	ENSG00000172867	HGNC:6439													
LSS	gene	LSS	Expert Review Amber;Literature	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Alopecia-intellectual disability syndrome 4, OMIM:618840;alopecia-intellectual disability syndrome 4, MONDO:0030009				30723320;35830358		False	2	100;0;0	4.12	False		ENSG00000160285	ENSG00000160285	HGNC:6708													
MPDU1	gene	MPDU1	Expert Review Amber;Literature	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type If, OMIM:609180;MPDU1-congenital disorder of glycosylation, MONDO:0012211;ichthyosis, MONDO:0019269				11733564;29721919;35279850;36755425;38831602		False	2	100;0;0	4.12	False		ENSG00000129255	ENSG00000129255	HGNC:7207													
MSMO1	gene	MSMO1	Expert Review Amber	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793						False	2	0;100;0	4.12	False		ENSG00000052802	ENSG00000052802	HGNC:10545													
SMARCAD1	gene	SMARCAD1	Expert Review Amber	Ichthyosis and erythrokeratoderma		Dermatology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Basan syndrome, OMIM:129200;palmoplantar keratoderma				24909267;26932190;24664640		False	2	0;0;0	4.12	False		ENSG00000163104	ENSG00000163104	HGNC:18398													
VIPAS39	gene	VIPAS39	Expert Review Amber;Literature	Ichthyosis and erythrokeratoderma		Dermatology	BIALLELIC, autosomal or pseudoautosomal	Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404				39736737;37202112;32239418;26019847		False	2	100;0;0	4.12	False		ENSG00000151445	ENSG00000151445	HGNC:20347