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.

3 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

139 Entities

10 reviewed, 32 green

List Entity Reviews Mode of inheritance Details
139 Entitiess
Green Green List (high evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
0 reviews
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)
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)
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

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