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 ABCC6 gene ABCC6 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Pseudoxanthoma elasticum, 264800; PXE 26759320; 26903185 False 1 0;0;0 0.53 False ENSG00000091262 ENSG00000091262 HGNC:57 ACD gene ACD Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Dyskeratosis congenita, autosomal recessive 7, 616553; ?Dyskeratosis congenita, autosomal dominant 6, 616553 26903185 False 1 0;0;0 0.53 False ENSG00000102977 ENSG00000102977 HGNC:25070 ACVRL1 gene ACVRL1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 2, 600376 False 1 0;0;0 0.53 False ENSG00000139567 ENSG00000139567 HGNC:175 AKT1 gene AKT1 Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders IGH Breast cancer, somatic, 114480;Colorectal cancer, somatic, 114500;Ovarian cancer, somatic, 167000;{Schizophrenia, susceptibility to}, 181500 (2);Proteus syndrome, somatic, 176920;Cowden syndrome 6, 615109 False 1 0;0;0 0.53 False ENSG00000142208 ENSG00000142208 HGNC:391 ALDH18A1 gene ALDH18A1 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA, 219150; Cutis laxa, autosomal dominant 3, 616603 18478038; 24913064 False 1 0;0;0 0.53 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, 270200 27195039; 26903185 False 1 0;0;0 0.53 False ENSG00000072210 ENSG00000072210 HGNC:403 AP1S1 gene AP1S1 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome, 609313; mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 19057675 False 1 0;0;0 0.53 False ENSG00000106367 ENSG00000106367 HGNC:559 ATM gene ATM Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, 208900 False 1 0;0;0 0.53 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP6V0A2 gene ATP6V0A2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, 219200 26903185 False 1 0;0;0 0.53 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, 309400 26903185 False 1 0;0;0 0.53 False ENSG00000165240 ENSG00000165240 HGNC:869 ATXN2 gene ATXN2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 2, 183090 26903185 False 1 0;0;0 0.53 False ENSG00000204842 ENSG00000204842 HGNC:10555 BLM gene BLM Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, 210900 26903185 False 1 0;0;0 0.53 False ENSG00000197299 ENSG00000197299 HGNC:1058 BTD gene BTD Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, 253260 26903185 False 1 0;0;0 0.53 False ENSG00000169814 ENSG00000169814 HGNC:1122 CCND1 gene CCND1 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {von Hippel-Lindau syndrome, modifier of}, 193300 False 1 0;0;0 0.53 False ENSG00000110092 ENSG00000110092 HGNC:1582 CYP27A1 gene CYP27A1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinousxanthomatosis, 213700 26903185 False 1 0;0;0 0.53 False ENSG00000135929 ENSG00000135929 HGNC:2605 DDB2 gene DDB2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 26759320 False 1 0;0;0 0.53 False ENSG00000134574 ENSG00000134574 HGNC:2718 DKC1 gene DKC1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita, X-linked, 305000 26903185 False 1 0;0;0 0.53 False ENSG00000130826 ENSG00000130826 HGNC:2890 DSTYK gene DSTYK Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, 270750; Disordered pigmentation, spastic paraparesis and peripheral neuropathy; SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES 7441281 False 1 0;0;0 0.53 False ENSG00000133059 ENSG00000133059 HGNC:29043 ECM1 gene ECM1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Urbach-Wiethe disease, 247100 26903185 False 1 0;0;0 0.53 False ENSG00000143369 ENSG00000143369 HGNC:3153 EHHADH gene EHHADH Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders ?Fanconi renotubular syndrome 3, 615605 False 1 0;0;0 0.53 False ENSG00000113790 ENSG00000113790 HGNC:3247 ELOVL4 gene ELOVL4 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 34, 133190 24566826 False 1 0;0;0 0.53 False ENSG00000118402 ENSG00000118402 HGNC:14415 ENG gene ENG Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 1, 187300; Hereditary hemorrhagic telangiectasia (HHT) 26759320 False 1 0;0;0 0.53 False ENSG00000106991 ENSG00000106991 HGNC:3349 ERCC2 gene ERCC2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group D, 278730 26759320 False 1 0;0;0 0.53 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B, 610651 26759320 False 1 0;0;0 0.53 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G, 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 26759320 False 1 0;0;0 0.53 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC8 gene ERCC8 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, 216400 26903185 False 1 0;0;0 0.53 False ENSG00000049167 ENSG00000049167 HGNC:3439 FANCM gene FANCM Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Fanconi Anemia;Fanconi Anaemia 16116422 Meetei et al., 2005 paper that originally classified FANCM as a Fanconi anemia gene;19423727 Singh et al., 2009 reclassified the Meetei et al, patients as having FANCA;25078778 Lim et al., 2014 did NOT find evidence to support FANCM as a gene associated with Fanconi anemia. False 1 0;0;0 0.53 False ENSG00000187790 ENSG00000187790 HGNC:23168 FGFR1 gene FGFR1 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Encephalocraniocutaneous lipomatosis, 613001 26706010; 26903185 False 1 0;0;0 0.53 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR3 gene FGFR3 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Nevus, epidermal, somatic, 162900; Solomon syndrome; Epidermal nevus syndrome (ENS) 28207006 False 1 0;0;0 0.53 False ENSG00000068078 ENSG00000068078 HGNC:3690 GDF2 gene GDF2 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Telangiectasia, hereditary hemorrhagic, type 5, 615506 26759320 False 1 0;0;0 0.53 False ENSG00000128802 ENSG00000263761 HGNC:4217 GJB2 gene GJB2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Keratitis-ichthyosis-deafness syndrome, 148210 26903185 False 1 0;0;0 0.53 False ENSG00000165474 ENSG00000165474 HGNC:4284 GLA gene GLA Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Fabry disease, 301500 False 1 0;0;0 0.53 False ENSG00000102393 ENSG00000102393 HGNC:4296 GNAQ gene GNAQ Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Sturge-Weber syndrome, somatic, mosaic, 185300; encephalofacial angiomatosis 28454448; 28250072; 26759320 False 1 0;0;0 0.53 False ENSG00000156052 ENSG00000156052 HGNC:4390 HCCS gene HCCS Literature 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) Linear skin defects withmultiple congenital anomalies 1, HCCS 26903185 False 1 0;0;0 0.53 False ENSG00000004961 ENSG00000004961 HGNC:4837 HLCS gene HLCS Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Holocarboxylasesynthetase deficiency, 253270 26903185 False 1 0;0;0 0.53 False ENSG00000159267 ENSG00000159267 HGNC:4976 HRAS gene HRAS UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Noonan syndrome;Costello syndrome, 218040 26903185 False 1 0;0;0 0.53 False ENSG00000174775 ENSG00000174775 HGNC:5173 IDS gene IDS Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II, 309900; Hunter syndrome 26903185 False 1 0;0;0 0.53 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, 607014; Hurler syndrome 26903185 False 1 0;0;0 0.53 False ENSG00000127415 ENSG00000127415 HGNC:5391 KLLN gene KLLN Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Cowden syndrome 4, 615107 False 1 0;0;0 0.53 False ENSG00000227268 ENSG00000227268 HGNC:37212 KRIT1 gene KRIT1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860; Cerebral cavernous malformations-1, 116860; Cavernous malformations of CNS and retina, 116860 26903185 False 1 0;0;0 0.53 False ENSG00000001631 ENSG00000001631 HGNC:1573 LYST gene LYST Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, 214500 26903185 False 1 0;0;0 0.53 False ENSG00000143669 ENSG00000143669 HGNC:1968 LZTR1 gene LZTR1 Literature;Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Schwannomatosis-2, susceptibility to}, 615670;Noonan syndrome 10, 616564 False 1 0;0;0 0.53 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K2 gene MAP2K2 UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Noonan syndrome;Cardiofaciocutaneous syndrome 4, 615280 False 1 0;0;0 0.53 False ENSG00000126934 ENSG00000126934 HGNC:6842 MBTPS2 gene MBTPS2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECKsyndrome, 308205 26903185 False 1 0;0;0 0.53 False ENSG00000012174 ENSG00000012174 HGNC:15455 MEF2C gene MEF2C Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders 5q14.3 deletion neurocutaneous syndrome 26774077 False 1 0;0;0 0.53 False ENSG00000081189 ENSG00000081189 HGNC:6996 MPLKIP gene MPLKIP Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Trichothiodystrophy 4, nonphotosensitive, 234050; Trichothiodystrophy-neurocutaneous syndrome False 1 0;0;0 0.53 False ENSG00000168303 ENSG00000168303 HGNC:16002 MRE11 gene MRE11 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder, 604391 False 1 0;0;0 0.53 False ENSG00000020922 ENSG00000020922 HGNC:7230 MSMO1 gene MSMO1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiformdermatitis, 616834 26903185 False 1 0;0;0 0.53 False ENSG00000052802 ENSG00000052802 HGNC:10545 MYO5A gene MYO5A Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders neuroectodermal melanolysosomal disease; Elejalde disease 10052404; 11170073 False 1 0;0;0 0.53 False ENSG00000197535 ENSG00000197535 HGNC:7602 NHP2 gene NHP2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 2, 613987 26903185 False 1 0;0;0 0.53 False ENSG00000145912 ENSG00000145912 HGNC:14377 NLRP3 gene NLRP3 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muckle-Wellssyndrome, 191900; Cryopyrin-associated periodic syndrome; CINCA syndrome, 607115 26903185 False 1 0;0;0 0.53 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOD2 gene NOD2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blau syndrome, 186580 26903185 False 1 0;0;0 0.53 False ENSG00000167207 ENSG00000167207 HGNC:5331 NOP10 gene NOP10 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 1, 224230 26903185 False 1 0;0;0 0.53 False ENSG00000182117 ENSG00000182117 HGNC:14378 PAH gene PAH Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, 261600 26903185 False 1 0;0;0 0.53 False ENSG00000171759 ENSG00000171759 HGNC:8582 PARN gene PARN Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6, 616353 26903185 False 1 0;0;0 0.53 False ENSG00000140694 ENSG00000140694 HGNC:8609 PCNA gene PCNA Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia-telangiectasia-like disorder, 615919 False 1 0;0;0 0.53 False ENSG00000132646 ENSG00000132646 HGNC:8729 PEX7 gene PEX7 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Rhizomelicchondrodysplasiapunctata, type 1, 215100 26903185 False 1 0;0;0 0.53 False ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500 26903185 False 1 0;0;0 0.53 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIGL gene PIGL Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, 280000 26903185 False 1 0;0;0 0.53 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIK3CA gene PIK3CA Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders CLOVE syndrome, somatic, 612918; congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities; Nevus, epidermal, somatic, 162900 26706010 False 1 0;0;0 0.53 False ENSG00000121879 ENSG00000121879 HGNC:8975 POLH gene POLH Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, 278750 26759320 False 1 0;0;0 0.53 False ENSG00000170734 ENSG00000170734 HGNC:9181 PORCN gene PORCN Literature 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) Focal dermalhypoplasia, 305600 26903185 False 1 0;0;0 0.53 False ENSG00000102312 ENSG00000102312 HGNC:17652 PTCH2 gene PTCH2 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, 109400; Gorlin syndrome; Nevoid basal cell carcinoma syndrome (NBCCS) False 1 0;0;0 0.53 False ENSG00000117425 ENSG00000117425 HGNC:9586 RASA1 gene RASA1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders 5q14.3 deletion neurocutaneous syndrome 26774077 False 1 0;0;0 0.53 False ENSG00000145715 ENSG00000145715 HGNC:9871 RECQL4 gene RECQL4 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomsonsyndrome, 268400 26903185 False 1 0;0;0 0.53 False ENSG00000160957 ENSG00000160957 HGNC:9949 RIT1 gene RIT1 Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Noonan syndrome 8, 615355 26903185 False 1 0;0;0 0.53 False ENSG00000143622 ENSG00000143622 HGNC:10023 RTEL1 gene RTEL1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 5, 615190; Dyskeratosis congenita, autosomal dominant 4, 615190 26903185 False 1 0;0;0 0.53 False ENSG00000258366 ENSG00000258366 HGNC:15888 SDHB gene SDHB Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Paragangliomas 4, 115310;Pheochromocytoma, 171300;Paraganglioma and gastric stromal sarcoma, 606864;Cowden syndrome 2, 612359;Gastrointestinal stromal tumor, 606764 False 1 0;0;0 0.53 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Paragangliomas 1, with or without deafness, 168000;Pheochromocytoma, 171300;Carcinoid tumors, intestinal, 114900;Merkel cell carcinoma, somatic;Paraganglioma and gastric stromal sarcoma, 606864;Cowden syndrome 3, 615106 False 1 0;0;0 0.53 False ENSG00000204370 ENSG00000204370 HGNC:10683 SLC34A1 gene SLC34A1 Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Fanconi renotubular syndrome 2, 613388 False 1 0;0;0 0.53 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC6A19 gene SLC6A19 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, 234500 26903185 False 1 0;0;0 0.53 False ENSG00000174358 ENSG00000174358 HGNC:27960 SMAD4 gene SMAD4 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Hereditary hemorrhagic telangiectasia (HHT) 26759320 False 1 0;0;0 0.53 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCB1 gene SMARCB1 UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Neurofibromatosis, Schwannomas and Caf_ Au Lait;{Schwannomatosis-1, susceptibility to}, 162091 False 1 0;0;0 0.53 False ENSG00000099956 ENSG00000099956 HGNC:11103 SNAP29 gene SNAP29 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528; CEDNIK syndrome 15968592 False 1 0;0;0 0.53 False ENSG00000099940 ENSG00000099940 HGNC:11133 SOS2 gene SOS2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9, 616559 26903185 False 1 0;0;0 0.53 False ENSG00000100485 ENSG00000100485 HGNC:11188 SPRED1 gene SPRED1 UKGTN Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Neurofibromatosis, Schwannomas and Caf_ Au Lait;NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME; Legius Syndrome;Noonan syndrome False 1 0;0;0 0.53 False ENSG00000166068 ENSG00000166068 HGNC:20249 ST3GAL5 gene ST3GAL5 Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome, 609056 24026681 False 1 0;0;0 0.53 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAMBP gene STAMBP Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly-capillary malformation syndrome, 614261 26903185 False 1 0;0;0 0.53 False ENSG00000124356 ENSG00000124356 HGNC:16950 STS gene STS Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Ichthyosis, X-linked, 308100 26903185 False 1 0;0;0 0.53 False ENSG00000101846 ENSG00000101846 HGNC:11425 SUFU gene SUFU Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal cell nevus syndrome, 109400; Gorlin syndrome; Nevoid basal cell carcinoma syndrome (NBCCS) False 1 0;0;0 0.53 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency, 272200 26903185 False 1 0;0;0 0.53 False ENSG00000144455 ENSG00000144455 HGNC:20376 TAT gene TAT Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II, 276600; Richner-Hanhart syndrome (tyrosinemia type II) 26903185 False 1 0;0;0 0.53 False ENSG00000198650 ENSG00000198650 HGNC:11573 TERC gene TERC Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 1, 127550 26903185 False 1 0;0;0 0.53 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 26903185 False 1 0;0;0 0.53 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 3, 613990; Revesz syndrome, 268130 26903185 False 1 0;0;0 0.53 False ENSG00000092330 ENSG00000092330 HGNC:11824 TREX1 gene TREX1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieressyndrome 1, dominant and recessive, 225750 26903185 False 1 0;0;0 0.53 False ENSG00000213689 ENSG00000213689 HGNC:12269 TYR gene TYR Radboud University Medical Center, Nijmegen Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders Albinism, oculocutaneous, type IA, 203100;Waardenburg syndrome/albinism, digenic, 103470;Albinism, oculocutaneous, type IB, 606952;[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800;{Melanoma, cutaneous malignant, susceptibi False 1 0;0;0 0.53 False ENSG00000077498 ENSG00000077498 HGNC:12442 VHL gene VHL Other Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown von Hippel-Lindau syndrome, 193300 False 1 0;0;0 0.53 False ENSG00000134086 ENSG00000134086 HGNC:12687 VPS33B gene VPS33B Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renaldysfunction, andcholestasis 1, 208085 26903185 False 1 0;0;0 0.53 False ENSG00000184056 ENSG00000184056 HGNC:12712 WRAP53 gene WRAP53 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, 613988 26903185 False 1 0;0;0 0.53 False ENSG00000141499 ENSG00000141499 HGNC:25522 XPA gene XPA Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A, 278700 26759320 False 1 0;0;0 0.53 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C, 278720 26759320 False 1 0;0;0 0.53 False ENSG00000154767 ENSG00000154767 HGNC:12816 XYLT1 gene XYLT1 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal {Pseudoxanthoma elasticum, modifier of severity of}, 264800 26759320 False 1 0;0;0 0.53 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Literature Undiagnosed neurocutaneous disorders Neurocutaneous disorders Dermatological disorders BIALLELIC, autosomal or pseudoautosomal {Pseudoxanthoma elasticum, modifier of severity of}, 264800 26759320 False 1 0;0;0 0.53 False ENSG00000015532 ENSG00000015532 HGNC:15517