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
CARD14	gene	CARD14	Expert Review Green;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Psoriasis 2, OMIM:602723;Pityriasis rubra pilaris, OMIM:173200				26203641;23648549;22521418;22703878;23067081;29704870;29689250		False	3	0;0;100	1.13	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000141527	ENSG00000141527	HGNC:16446													
IL36RN	gene	IL36RN	Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Psoriasis 14, pustular, OMIM:614204				21839423;25458002;27388993		False	3	100;0;0	1.13	False		ENSG00000136695	ENSG00000136695	HGNC:15561													
AP1S3	gene	AP1S3	Expert Review Red;Literature;Research	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	"{Psoriasis 15, pustular, susceptibility to}	616106"				24791904;27388993		False	1	0;0;100	1.13	False		ENSG00000152056	ENSG00000152056	HGNC:18971													
HLA-C	gene	HLA-C	Expert Review Red;Other	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	Other - please specifiy in evaluation comments	"{Psoriasis susceptibility 1}	177900"						False	1	0;0;0	1.13	False		ENSG00000204525	ENSG00000204525	HGNC:4933													
MSMO1	gene	MSMO1	Emory Genetics Laboratory;Expert Review Red	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793						False	1	0;100;0	1.13	False		ENSG00000052802	ENSG00000052802	HGNC:10545													
NOD2	gene	NOD2	Expert Review Red;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	Unknown	{Psoriatic arthritis, susceptibility to}, 607507						False	1	0;50;50	1.13	False		ENSG00000167207	ENSG00000167207	HGNC:5331													
PSTPIP1	gene	PSTPIP1	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, OMIM:604416						False	1	0;0;100	1.13	False		ENSG00000140368	ENSG00000140368	HGNC:9580													
SLC39A4	gene	SLC39A4	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Acrodermatitis enteropathica, 201100						False	1	0;100;0	1.13	False		ENSG00000147804	ENSG00000147804	HGNC:17129													
STAT2	gene	STAT2	Expert Review Red;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	"Immunodeficiency 44	616636"				23143594		False	1	0;100;0	1.13	False		ENSG00000170581	ENSG00000170581	HGNC:11363													
TRAF3IP2	gene	TRAF3IP2	Expert Review Red;Literature	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	Unknown	"{Psoriasis susceptibility 13}	614070"				24005976		False	1	0;0;100	1.13	False		ENSG00000056972	ENSG00000056972	HGNC:1343													
TRPV3	gene	TRPV3	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Palmoplantar keratoderma, nonepidermolytic, focal 2 616400;AD 3 Olmsted syndrome 614594						False	1	0;100;0	1.13	False		ENSG00000167723	ENSG00000167723	HGNC:18084													
ZNF750	gene	ZNF750	Expert Review Red;Literature;Radboud University Medical Center, Nijmegen	Generalised pustular psoriasis	Autoimmune skin disorders	Dermatological disorders	Unknown	Seborrhea-like dermatitis with psoriasiform elements, 610227				16751772;22185198		False	1	0;100;0	1.13	False		ENSG00000141579	ENSG00000141579	HGNC:25843													
