Undiagnosed neurocutaneous disorders (Version 0.53)

This Panel is marked as Internal

Description

Eligibility statement for Undiagnosed neurocutaneous disorders (33686):

Undiagnosed neurocutaneous disorders inclusion criteria (33469)
All of the following:
1)	Abnormal skin pigmentation (café au lait pigmentation, or hypopigmentation, or both)
2)	Affected individual has a family history of abnormal skin pigmentation in a first degree relative or is the offspring of a consanguineous relationship
3)	Neurological phenotype in at least two of the family members who have skin pigmentary abnormalities (seizures or developmental delay or evidence of congenital abnormality on MRI scan)
4)	No diagnosis after assessment by Dermatologist, Neurologist and Geneticist
5)	No evidence of chromosomal abnormality on karyotype
6)	No pathogenic mutations in the NF1 gene if the child is too young to definitely exclude neurofibromatosis type 1 clinically, and the phenotype could potentially be compatible with that diagnosis

Undiagnosed neurocutaneous disorders exclusion criteria (33469)

Prior genetic testing guidance (33469)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Undiagnosed neurocutaneous disorders prior genetic testing genes (33469)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 NF1 as indicated above

Closing statement (33469)
These requirements will be kept under continual review during the main programme and may be subject to change.

Panel Activity

4 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

139 Entities

11 reviewed, 33 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 139 Entitiess
Green Green List (high evidence)	BRAF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Noonan syndrome 7, 613706 Noonan Syndrome LEOPARD Syndrome, 613707 Cardiofaciocutaneous Syndrome, 115150 Costello Syndrome, 218040 Noonan-Like Syndrome with Loose Anagen Hair Tags
Green Green List (high evidence)	BRCA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes {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 Tags
Green Green List (high evidence)	BRIP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes ?Breast cancer, early-onset, 114480 Fanconi anemia, complementation group J, 609054 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	CBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Noonan syndrome like disorder with or without juvenile myelomonocytic leukemia, 613563 Noonan-Like Syndrome Disorder Tags
Green Green List (high evidence)	FANCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group A, 227650 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCB	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group B, 300514 Fanconi Anemia, X-Linked Fanconi Anemia Type B Fanconi Anaemia Tags
Green Green List (high evidence)	FANCC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group C, 227645 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group D2, 227646 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group E, 600901 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group F, 603467 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group G, 614082 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group I, 609053 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group L, 614083 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	17q11.2 recurrent region (includes NF1) Loss ISCA-37431-Loss Region	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources ClinGen Expert Review Green Phenotypes 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 Tags
Green Green List (high evidence)	KIT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Piebaldism, 172800 Gastrointestinal stromal tumor, familial, 606764 Mast cell disease, 154800 Leukemia, acute myeloid, 601626 Germ cell tumors, 273300 Piebald Trait PIEBALD TRAIT (PBT) Tags
Green Green List (high evidence)	KRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Noonan syndrome 3, 609942 Tags
Green Green List (high evidence)	MAP2K1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Noonan Syndrome Cardiofaciocutaneous syndrome 3, 615279 Tags
Green Green List (high evidence)	NF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags
Green Green List (high evidence)	NF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Neurofibromatosis, type 2, 101000 Meningioma, NF2-related, somatic, 607174 Schwannomatosis, 162091 Neurofibromatosis, Type 2 Neurofibromatosis, Type II Tags
Green Green List (high evidence)	NRAS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Noonan syndrome Noonan syndrome 6, 613224 Neurocutaneous melanosis, somatic, 249400 Tags
Green Green List (high evidence)	PALB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	PAX3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Waardenburg syndrome, type 1, 193500 Waardenburg Syndrome Waardenburg Syndrome, Type 1 Waardenburg syndrome, type 3, 148820 Tags
Green Green List (high evidence)	PTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags
Green Green List (high evidence)	PTEN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags
Green Green List (high evidence)	PTPN11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes LEOPARD syndrome 1, 151100 Noonan syndrome 1, 163950 Tags
Green Green List (high evidence)	RAF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes LEOPARD syndrome 2, 611554 Noonan syndrome 5, 611553 Tags
Green Green List (high evidence)	SHOC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Noonan-like syndrome with loose anagen hair, 607721 Tags
Green Green List (high evidence)	SLC2A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi-Bickel syndrome, 227810 Tags
Green Green List (high evidence)	SLX4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group P, 613951 Fanconi Anemia Fanconi Anaemia Tags
Green Green List (high evidence)	SNAI2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Waardenburg syndrome, type 2D, 608890 Piebaldism, 172800 Waardenburg Syndrome Piebald Trait WAARDENBURG SYNDROME, TYPE 2D (WS2D) PIEBALD TRAIT (PBT) Tags
Green Green List (high evidence)	SOS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Noonan syndrome 4, 610733 Tags
Green Green List (high evidence)	TSC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Focal cortical dysplasia, Taylor balloon cell type, 607341 Lymphangioleiomyomatosis, 606690 Tuberous sclerosis-1, 191100 Tuberous Sclerosis Tags
Green Green List (high evidence)	TSC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Tuberous sclerosis-2, 613254 Lymphangioleiomyomatosis, somatic, 606690 Tuberous Sclerosis Tags
Amber Amber List (moderate evidence)	EDN3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Waardenburg syndrome, type 4B, 613265 Central hypoventilation syndrome, congenital, 209880 {Hirschsprung disease, susceptibility to}, 613712 Waardenburg Syndrome Tags
Amber Amber List (moderate evidence)	EDNRB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes ?{Hirschsprung disease, susceptibility to}, 600155 ABCD syndrome, 600501 Waardenburg syndrome, type 4A, 277580 Waardenburg Syndrome Tags
Amber Amber List (moderate evidence)	ERCC4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes Xeroderma pigmentosum, group F, 278760 XFE progeroid syndrome, 610965 Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Fanconi Anaemia Tags
Amber Amber List (moderate evidence)	IKBKG	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags
Amber Amber List (moderate evidence)	MITF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Amber Amber List (moderate evidence)	MLH1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes Colorectal cancer, hereditary nonpolyposis, type 2, 609310 Mismatch repair cancer syndrome, 276300 Muir-Torre syndrome, 158320 Lynch Syndrome (HNPCC) and Familial Colorectal Cancer Tags
Amber Amber List (moderate evidence)	MSH2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes Colorectal cancer, hereditary nonpolyposis, type 1, 120435 Muir-Torre syndrome, 158320 Mismatch repair cancer syndrome, 276300 Lynch Syndrome (HNPCC) and Familial Colorectal Cancer Tags
Amber Amber List (moderate evidence)	MSH6	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes 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 Tags
Amber Amber List (moderate evidence)	PMS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mismatch repair cancer syndrome, 276300 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 Lynch Syndrome (HNPCC) and Familial Colorectal Cancer Mismatch repair cancer syndrome, 276303 Tags
Amber Amber List (moderate evidence)	PPP1CB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, 617506 Tags
Amber Amber List (moderate evidence)	RAD51C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group O, 613390 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 Fanconi Anemia Fanconi Anaemia Tags watchlist
Amber Amber List (moderate evidence)	SOX10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Waardenburg syndrome, type 4C, 613266 PCWH syndrome, 609136 Waardenburg syndrome, type 2E, with or without neurological involvement, 611584 Waardenburg Syndrome Tags
Red Red List (low evidence)	ABCC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Pseudoxanthoma elasticum, 264800 PXE Tags
Red Red List (low evidence)	ACD	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Dyskeratosis congenita, autosomal recessive 7, 616553 ?Dyskeratosis congenita, autosomal dominant 6, 616553 Tags
Red Red List (low evidence)	ACVRL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, 600376 Tags
Red Red List (low evidence)	AKT1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Red Red List (low evidence)	ALDH18A1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Other Phenotypes Cutis laxa, autosomal recessive, type IIIA, 219150 Cutis laxa, autosomal dominant 3, 616603 Tags
Red Red List (low evidence)	ALDH3A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Sjogren-Larsson syndrome, 270200 Tags
Red Red List (low evidence)	AP1S1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes MEDNIK syndrome, 609313 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma Tags
Red Red List (low evidence)	ATM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Ataxia-telangiectasia, 208900 Tags
Red Red List (low evidence)	ATP6V0A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cutis laxa, autosomal recessive, type IIA, 219200 Tags
Red Red List (low evidence)	ATP7A	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Menkes disease, 309400 Tags
Red Red List (low evidence)	ATXN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Spinocerebellar ataxia 2, 183090 Tags
Red Red List (low evidence)	BLM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Bloom syndrome, 210900 Tags
Red Red List (low evidence)	BTD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Biotinidase deficiency, 253260 Tags
Red Red List (low evidence)	CCND1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes {von Hippel-Lindau syndrome, modifier of}, 193300 Tags
Red Red List (low evidence)	CYP27A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cerebrotendinousxanthomatosis, 213700 Tags
Red Red List (low evidence)	DDB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 Tags
Red Red List (low evidence)	DKC1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Dyskeratosis congenita, X-linked, 305000 Tags
Red Red List (low evidence)	DSTYK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Spastic paraplegia 23, 270750 Disordered pigmentation, spastic paraparesis and peripheral neuropathy SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES Tags founder-effect
Red Red List (low evidence)	ECM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Urbach-Wiethe disease, 247100 Tags
Red Red List (low evidence)	EHHADH	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes ?Fanconi renotubular syndrome 3, 615605 Tags
Red Red List (low evidence)	ELOVL4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes ?Spinocerebellar ataxia 34, 133190 Tags
Red Red List (low evidence)	ENG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, 187300 Hereditary hemorrhagic telangiectasia (HHT) Tags
Red Red List (low evidence)	ERCC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, group D, 278730 Tags
Red Red List (low evidence)	ERCC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, group B, 610651 Tags
Red Red List (low evidence)	ERCC5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, group G, 278780 Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 Tags
Red Red List (low evidence)	ERCC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Cockayne syndrome, type A, 216400 Tags
Red Red List (low evidence)	FANCM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi Anaemia Tags
Red Red List (low evidence)	FGFR1	0 reviews	Not set	Sources Other Phenotypes Encephalocraniocutaneous lipomatosis, 613001 Tags
Red Red List (low evidence)	FGFR3	0 reviews	Not set	Sources Literature Phenotypes Nevus, epidermal, somatic, 162900 Solomon syndrome Epidermal nevus syndrome (ENS) Tags
Red Red List (low evidence)	GDF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Telangiectasia, hereditary hemorrhagic, type 5, 615506 Tags
Red Red List (low evidence)	GJB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Keratitis-ichthyosis-deafness syndrome, 148210 Tags
Red Red List (low evidence)	GLA	0 reviews	Not set	Sources Literature Phenotypes Fabry disease, 301500 Tags
Red Red List (low evidence)	GNAQ	0 reviews	Not set	Sources Other Phenotypes Sturge-Weber syndrome, somatic, mosaic, 185300 encephalofacial angiomatosis Tags
Red Red List (low evidence)	HCCS	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Linear skin defects withmultiple congenital anomalies 1, HCCS Tags
Red Red List (low evidence)	HLCS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Holocarboxylasesynthetase deficiency, 253270 Tags
Red Red List (low evidence)	HRAS	0 reviews	Not set	Sources UKGTN Phenotypes Noonan syndrome Costello syndrome, 218040 Tags
Red Red List (low evidence)	IDS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Mucopolysaccharidosis II, 309900 Hunter syndrome Tags
Red Red List (low evidence)	IDUA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Mucopolysaccharidosis Ih, 607014 Hurler syndrome Tags
Red Red List (low evidence)	KLLN	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Cowden syndrome 4, 615107 Tags
Red Red List (low evidence)	KRIT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 Cerebral cavernous malformations-1, 116860 Cavernous malformations of CNS and retina, 116860 Tags
Red Red List (low evidence)	LYST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Chediak-Higashi syndrome, 214500 Tags
Red Red List (low evidence)	LZTR1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Other Phenotypes {Schwannomatosis-2, susceptibility to}, 615670 Noonan syndrome 10, 616564 Tags
Red Red List (low evidence)	MAP2K2	0 reviews	Not set	Sources UKGTN Phenotypes Noonan syndrome Cardiofaciocutaneous syndrome 4, 615280 Tags
Red Red List (low evidence)	MBTPS2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes IFAP syndrome with or without BRESHECKsyndrome, 308205 Tags
Red Red List (low evidence)	MEF2C	1 review	Not set	Sources Literature Phenotypes 5q14.3 deletion neurocutaneous syndrome Tags polygenic
Red Red List (low evidence)	MPLKIP	0 reviews	Not set	Sources Other Phenotypes Trichothiodystrophy 4, nonphotosensitive, 234050 Trichothiodystrophy-neurocutaneous syndrome Tags
Red Red List (low evidence)	MRE11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Ataxia-telangiectasia-like disorder, 604391 Tags
Red Red List (low evidence)	MSMO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Microcephaly, congenital cataract, and psoriasiformdermatitis, 616834 Tags
Red Red List (low evidence)	MYO5A	0 reviews	Not set	Sources Other Phenotypes neuroectodermal melanolysosomal disease Elejalde disease Tags
Red Red List (low evidence)	NHP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Tags
Red Red List (low evidence)	NLRP3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Muckle-Wellssyndrome, 191900 Cryopyrin-associated periodic syndrome CINCA syndrome, 607115 Tags
Red Red List (low evidence)	NOD2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Blau syndrome, 186580 Tags
Red Red List (low evidence)	NOP10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Dyskeratosis congenita, autosomal recessive 1, 224230 Tags
Red Red List (low evidence)	PAH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Phenylketonuria, 261600 Tags
Red Red List (low evidence)	PARN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Dyskeratosis congenita, autosomal recessive 6, 616353 Tags
Red Red List (low evidence)	PCNA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes ?Ataxia-telangiectasia-like disorder, 615919 Tags
Red Red List (low evidence)	PEX7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Rhizomelicchondrodysplasiapunctata, type 1, 215100 Tags
Red Red List (low evidence)	PHYH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Refsum disease, 266500 Tags
Red Red List (low evidence)	PIGL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes CHIME syndrome, 280000 Tags
Red Red List (low evidence)	PIK3CA	0 reviews	Not set	Sources Other Phenotypes CLOVE syndrome, somatic, 612918 congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities Nevus, epidermal, somatic, 162900 Tags
Red Red List (low evidence)	POLH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, variant type, 278750 Tags
Red Red List (low evidence)	PORCN	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Focal dermalhypoplasia, 305600 Tags
Red Red List (low evidence)	PTCH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Basal cell nevus syndrome, 109400 Gorlin syndrome Nevoid basal cell carcinoma syndrome (NBCCS) Tags
Red Red List (low evidence)	RASA1	1 review	Not set	Sources Literature Phenotypes 5q14.3 deletion neurocutaneous syndrome Tags polygenic
Red Red List (low evidence)	RECQL4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Rothmund-Thomsonsyndrome, 268400 Tags
Red Red List (low evidence)	RIT1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Noonan syndrome 8, 615355 Tags
Red Red List (low evidence)	RTEL1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 Dyskeratosis congenita, autosomal dominant 4, 615190 Tags
Red Red List (low evidence)	SDHB	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Paragangliomas 4, 115310 Pheochromocytoma, 171300 Paraganglioma and gastric stromal sarcoma, 606864 Cowden syndrome 2, 612359 Gastrointestinal stromal tumor, 606764 Tags
Red Red List (low evidence)	SDHD	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Red Red List (low evidence)	SLC34A1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Fanconi renotubular syndrome 2, 613388 Tags
Red Red List (low evidence)	SLC6A19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Hartnup disorder, 234500 Tags
Red Red List (low evidence)	SMAD4	0 reviews	Not set	Sources Literature Phenotypes Hereditary hemorrhagic telangiectasia (HHT) Tags
Red Red List (low evidence)	SMARCB1	0 reviews	Not set	Sources UKGTN Phenotypes Neurofibromatosis, Schwannomas and Caf_ Au Lait {Schwannomatosis-1, susceptibility to}, 162091 Tags
Red Red List (low evidence)	SNAP29	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 CEDNIK syndrome Tags
Red Red List (low evidence)	SOS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Noonan syndrome 9, 616559 Tags
Red Red List (low evidence)	SPRED1	0 reviews	Not set	Sources UKGTN Phenotypes Neurofibromatosis, Schwannomas and Caf_ Au Lait NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME Legius Syndrome Noonan syndrome Tags
Red Red List (low evidence)	ST3GAL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes Salt and pepper developmental regression syndrome, 609056 Tags
Red Red List (low evidence)	STAMBP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Microcephaly-capillary malformation syndrome, 614261 Tags
Red Red List (low evidence)	STS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Ichthyosis, X-linked, 308100 Tags
Red Red List (low evidence)	SUFU	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes Basal cell nevus syndrome, 109400 Gorlin syndrome Nevoid basal cell carcinoma syndrome (NBCCS) Tags
Red Red List (low evidence)	SUMF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Multiple sulfatase deficiency, 272200 Tags
Red Red List (low evidence)	TAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Tyrosinemia, type II, 276600 Richner-Hanhart syndrome (tyrosinemia type II) Tags
Red Red List (low evidence)	TERC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 Tags
Red Red List (low evidence)	TERT	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989 {Dyskeratosis congenita, autosomal dominant 2}, 613989 Tags
Red Red List (low evidence)	TINF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Dyskeratosis congenita, autosomal dominant 3, 613990 Revesz syndrome, 268130 Tags
Red Red List (low evidence)	TREX1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Phenotypes Aicardi-Goutieressyndrome 1, dominant and recessive, 225750 Tags
Red Red List (low evidence)	TYR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes 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 Tags
Red Red List (low evidence)	VHL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Other Phenotypes von Hippel-Lindau syndrome, 193300 Tags
Red Red List (low evidence)	VPS33B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Arthrogryposis, renaldysfunction, andcholestasis 1, 208085 Tags
Red Red List (low evidence)	WRAP53	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Dyskeratosis congenita, autosomal recessive 3, 613988 Tags
Red Red List (low evidence)	XPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, group A, 278700 Tags
Red Red List (low evidence)	XPC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Xeroderma pigmentosum, group C, 278720 Tags
Red Red List (low evidence)	XYLT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes {Pseudoxanthoma elasticum, modifier of severity of}, 264800 Tags
Red Red List (low evidence)	XYLT2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes {Pseudoxanthoma elasticum, modifier of severity of}, 264800 Tags

Undiagnosed neurocutaneous disorders (Version 0.53)

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