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 BRAF gene BRAF Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 7, 613706;Noonan Syndrome;LEOPARD Syndrome, 613707;Cardiofaciocutaneous Syndrome, 115150;Costello Syndrome, 218040;Noonan-Like Syndrome with Loose Anagen Hair False 3 0;0;0 0.53 False ENSG00000157764 ENSG00000157764 HGNC:1097 BRCA2 gene BRCA2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal {Breast-ovarian cancer, familial, 2}, 612555;Fanconi anemia, complementation group D1, 605724;Prostate cancer, 176807;{Breast cancer, male, susceptibility to}, 114480;Wilms tumor, 194070;{Medulloblastoma}, 155255;{Glioblastoma 3}, 613029;Pancreatic cancer, 613347;{Glioblastoma 3},;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal ?Breast cancer, early-onset, 114480;Fanconi anemia, complementation group J, 609054;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000136492 ENSG00000136492 HGNC:20473 CBL gene CBL Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, 613563;Noonan-Like Syndrome Disorder False 3 0;0;0 0.53 False ENSG00000110395 ENSG00000110395 HGNC:1541 FANCA gene FANCA 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 A, 227650;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;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) Fanconi anemia, complementation group B, 300514;Fanconi Anemia, X-Linked;Fanconi Anemia Type B;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC 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 C, 227645;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 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 D2, 227646;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE 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 E, 600901;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF 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 F, 603467;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG 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 G, 614082;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI 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 I, 609053;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL 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 L, 614083;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000115392 ENSG00000115392 HGNC:20748 KIT gene KIT Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Piebaldism, 172800;Gastrointestinal stromal tumor, familial, 606764;Mast cell disease, 154800; Leukemia, acute myeloid, 601626;Germ cell tumors, 273300;Piebald Trait;PIEBALD TRAIT (PBT) False 3 0;0;0 0.53 False ENSG00000157404 ENSG00000157404 HGNC:6342 KRAS gene KRAS Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 3, 609942 26903185 False 3 0;0;0 0.53 False ENSG00000133703 ENSG00000133703 HGNC:6407 MAP2K1 gene MAP2K1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan Syndrome;Cardiofaciocutaneous syndrome 3, 615279 False 3 0;0;0 0.53 False ENSG00000169032 ENSG00000169032 HGNC:6840 NF1 gene NF1 Eligibility statement prior genetic testing;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 1, 162200;Leukemia, juvenile myelomonocytic, 607785;Melanoma, desmoplastic neurotrophic (2);Neurofibromatosis, familial spinal, 162210;Neurofibromatosis-Noonan syndrome, 601321;Watson syndrome, 193520;Familial Spinal Neurofibromatosis;Neurofibromatosis, Type 1 False 3 0;0;0 0.53 False ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis, type 2, 101000;Meningioma, NF2-related, somatic, 607174;Schwannomatosis, 162091;Neurofibromatosis, Type 2;Neurofibromatosis, Type II False 3 0;0;0 0.53 False ENSG00000186575 ENSG00000186575 HGNC:7773 NRAS gene NRAS Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome;Noonan syndrome 6, 613224;Neurocutaneous melanosis, somatic, 249400 False 3 0;0;0 0.53 False ENSG00000213281 ENSG00000213281 HGNC:7989 PALB2 gene PALB2 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 N, 610832;{Breast cancer, susceptibility to}, 114480;{Pancreatic cancer, susceptibility to, 3}, 613348;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAX3 gene PAX3 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Waardenburg syndrome, type 1, 193500;Waardenburg Syndrome;Waardenburg Syndrome, Type 1;Waardenburg syndrome, type 3, 148820 False 3 0;0;0 0.53 False ENSG00000135903 ENSG00000135903 HGNC:8617 PTCH1 gene PTCH1 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, 109400;Basal cell carcinoma, somatic, 605462;Holoprosencephaly-7, 610828;Nevoid Basal Cell Carcinoma Syndrome (NBCCS);Basal Cell Nevus Syndrome;Gorlin syndrome 26564075 False 3 0;0;0 0.53 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTEN gene PTEN Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, 158350;Lhermitte-Duclos syndrome, 158350;Bannayan-Riley-Ruvalcaba syndrome, 153480;{Meningioma}, 607174;{Glioma susceptibility 2}, 613028;Macrocephaly/autism syndrome, 605309;PTEN hamartoma tumor syndrome;VATER association with macrocephaly and ventriculomegaly, 276950;{Prostate cancer, somatic}, 176807;Thyroid carcinoma, follicular, somatic, 188470;Malignant melanoma, somatic, 155600;Endometrial carcinoma, somatic, 608089;Squamous cell carcinoma, head and neck, somatic, 275355;Cowden Syndrome;Cowden Disease False 3 0;0;0 0.53 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTPN11 gene PTPN11 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 1, 151100;Noonan syndrome 1, 163950 26903185 False 3 0;0;0 0.53 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD syndrome 2, 611554;Noonan syndrome 5, 611553 26903185 False 3 0;0;0 0.53 False ENSG00000132155 ENSG00000132155 HGNC:9829 SHOC2 gene SHOC2 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan-like syndrome with loose anagen hair, 607721 False 3 0;0;0 0.53 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLC2A2 gene SLC2A2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, 227810 False 3 0;0;0 0.53 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLX4 gene SLX4 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 P, 613951;Fanconi Anemia;Fanconi Anaemia False 3 0;0;0 0.53 False ENSG00000188827 ENSG00000188827 HGNC:23845 SNAI2 gene SNAI2 Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2D, 608890;Piebaldism, 172800;Waardenburg Syndrome;Piebald Trait;WAARDENBURG SYNDROME, TYPE 2D (WS2D); PIEBALD TRAIT (PBT) False 3 0;0;0 0.53 False ENSG00000019549 ENSG00000019549 HGNC:11094 SOS1 gene SOS1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 4, 610733 26903185 False 3 0;0;0 0.53 False ENSG00000115904 ENSG00000115904 HGNC:11187 TSC1 gene TSC1 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal cortical dysplasia, Taylor balloon cell type, 607341; Lymphangioleiomyomatosis, 606690; Tuberous sclerosis-1, 191100;Tuberous Sclerosis False 3 0;0;0 0.53 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2, 613254; Lymphangioleiomyomatosis, somatic, 606690;Tuberous Sclerosis False 3 0;0;0 0.53 False ENSG00000103197 ENSG00000103197 HGNC:12363 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 ISCA-37431-Loss region Expert Review Green;ClinGen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;NF1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 3 0;0;0 0.53 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss