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
EDN3	gene	EDN3	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Waardenburg syndrome, type 4B, 613265; Central hypoventilation syndrome, congenital, 209880;{Hirschsprung disease, susceptibility to}, 613712;Waardenburg Syndrome						False	2	0;0;0	0.53	False		ENSG00000124205	ENSG00000124205	HGNC:3178													
EDNRB	gene	EDNRB	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	?{Hirschsprung disease, susceptibility to}, 600155;ABCD syndrome, 600501;Waardenburg syndrome, type 4A, 277580;Waardenburg Syndrome						False	2	0;0;0	0.53	False		ENSG00000136160	ENSG00000136160	HGNC:3180													
ERCC4	gene	ERCC4	Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Xeroderma pigmentosum, group F, 278760;XFE progeroid syndrome, 610965;Fanconi anemia, complementation group Q, 615272;Xeroderma pigmentosum, type F/Cockayne syndrome, 278760;Fanconi Anaemia				26759320		False	2	0;0;0	0.53	False		ENSG00000175595	ENSG00000175595	HGNC:3436													
IKBKG	gene	IKBKG	Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Incontinentia pigmenti, type II, 308300; Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291;Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301;Immunodeficiency, isolated, 300584;{Atypical mycobacteriosis, familial}, 300636;Invasive pneumococcal disease, recurrent isolated, 2, 300640;Incontinentia Pigmenti						False	2	0;0;0	0.53	False		ENSG00000073009	ENSG00000269335	HGNC:5961													
MITF	gene	MITF	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Waardenburg syndrome, type 2A, 193510;Waardenburg syndrome/ocular albinism, digenic, 103470;Tietz albinism-deafness syndrome, 103500;{Melanoma, cutaneous malignant, susceptibility to, 8}, 614456;Waardenburg Syndrome						False	2	0;0;0	0.53	False		ENSG00000187098	ENSG00000187098	HGNC:7105													
MLH1	gene	MLH1	Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders		Colorectal cancer, hereditary nonpolyposis, type 2, 609310;Mismatch repair cancer syndrome, 276300;Muir-Torre syndrome, 158320;Lynch Syndrome (HNPCC) and Familial Colorectal Cancer				26903185		False	2	0;0;0	0.53	False		ENSG00000076242	ENSG00000076242	HGNC:7127													
MSH2	gene	MSH2	Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders		Colorectal cancer, hereditary nonpolyposis, type 1, 120435;Muir-Torre syndrome, 158320;Mismatch repair cancer syndrome, 276300;Lynch Syndrome (HNPCC) and Familial Colorectal Cancer				26903185		False	2	0;0;0	0.53	False		ENSG00000095002	ENSG00000095002	HGNC:7325													
MSH6	gene	MSH6	Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders		Colorectal cancer, hereditary nonpolyposis, type 5, 614350;Endometrial cancer, familial, 608089;Mismatch repair cancer syndrome, 276300;Mismatch Repair Cancer Syndrome;Lynch Syndrome (HNPCC) and Familial Colorectal Cancer				26903185		False	2	0;0;0	0.53	False		ENSG00000116062	ENSG00000116062	HGNC:7329													
PMS2	gene	PMS2	Literature;Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Mismatch repair cancer syndrome, 276300; Colorectal cancer, hereditary nonpolyposis, type 4, 614337;Lynch Syndrome (HNPCC) and Familial Colorectal Cancer;Mismatch repair cancer syndrome, 276303						False	2	0;0;0	0.53	False		ENSG00000122512	ENSG00000122512	HGNC:9122													
PPP1CB	gene	PPP1CB	Expert Review Amber;Other	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Noonan syndrome-like disorder with loose anagen hair 2, 617506				27868344; 27264673; 28211982		False	2	0;0;0	0.53	False		ENSG00000213639	ENSG00000213639	HGNC:9282													
RAD51C	gene	RAD51C	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	BIALLELIC, autosomal or pseudoautosomal	Fanconi anemia, complementation group O, 613390;{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399;Fanconi Anemia;Fanconi Anaemia						False	2	0;0;0	0.53	False		ENSG00000108384	ENSG00000108384	HGNC:9820													
SOX10	gene	SOX10	Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Undiagnosed neurocutaneous disorders	Neurocutaneous disorders	Dermatological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Waardenburg syndrome, type 4C, 613266;PCWH syndrome, 609136;Waardenburg syndrome, type 2E, with or without neurological involvement, 611584;Waardenburg Syndrome						False	2	0;0;0	0.53	False		ENSG00000100146	ENSG00000100146	HGNC:11190