Description
Ectodermal dysplasia without a known gene mutation (33699) Eligibility statement:

Ectodermal dysplasia without a known gene mutation inclusion criteria (33457)
- Ectodermal dysplasia i.e. abnormality of at least two of the following: - nails - teeth - hair - sweating -  With or without additional phenotypic features e.g. clefting, limb defects, hearing loss.

Ectodermal dysplasia without a known gene mutation exclusion criteria (33457)
•	Mutation in known ectodermal dysplasia gene

Prior genetic testing guidance (33457)
- 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.

Ectodermal dysplasia without a known gene mutation prior genetic testing genes (33457)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 -	According to phenotype: EDA, EDAR, EDARADD, WNT10A and/or TP63

Closing statement (33457)
These requirements will be kept under continual review during the main programme and may be subject to change.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • John McGrath (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

  • Sarah Leigh (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

28 Entities

28 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
28 Entitiess
Green Green List (high evidence)
NECTIN1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060
  • Orofacial cleft 7, 225060
Tags
Green Green List (high evidence)
NECTIN4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1 613573
Tags
Green Green List (high evidence)
CDH3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Tags
Green Green List (high evidence)
EDA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
  • Tooth agenesis, selective, X-linked 1, 313500
  • Ectodermal dysplasia 1 hypohidrotic X-linked
  • Hypohidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Tags
Green Green List (high evidence)
EDAR
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
  • [Hair morphology 1, hair thickness], 612630
  • [Hair morphology 1, hair thickness], 612630 -3
  • Hypohidrotic Ectodermal Dysplasia, Dominant
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
Tags
Green Green List (high evidence)
EDARADD
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypohidrotic ectodermal dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940
  • Hypohidrotic Ectodermal Dysplasia, Recessive
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
Tags
Green Green List (high evidence)
GJB6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Clouston syndrome
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Hidrotic Ectodermal Dysplasia
Tags
Green Green List (high evidence)
HOXC13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
Tags
Green Green List (high evidence)
IKBKG
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • 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
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
Tags
Green Green List (high evidence)
KRT14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome 161000
Tags
Green Green List (high evidence)
KRT85
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type, 602032
  • Ectodermal dysplasia, pure hair and nail type
Tags
Green Green List (high evidence)
MSX1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectodermal dysplasia 3, Witkop type 189500
Tags
Green Green List (high evidence)
NFKB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Immunodeficiency, common variable, 10 615577
Tags
Green Green List (high evidence)
NFKBIA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Tags
Green Green List (high evidence)
PKP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Tags
Green Green List (high evidence)
PORCN
2 reviews
1 green
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
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Focal dermal hypoplasia 305600
Tags
Green Green List (high evidence)
RMRP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cartilage-hair hypoplasia 250250
Tags
  • locus-type-rna-misc
Green Green List (high evidence)
TP63
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
  • Split-hand/foot malformation 4, 605289
  • Hay-Wells syndrome, 106260
  • ADULT syndrome, 103285
  • Limb-mammary syndrome, 603543
  • Rapp-Hodgkin syndrome, 129400
  • Orofacial cleft 8, 129400
  • Orofac
  • Adult Syndrome
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3
  • Limb-Mammary Syndrome
  • Rapp-Hodgkin Syndrome
  • Split-Hand/foot Malformation 4
  • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
  • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
  • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
Tags
Green Green List (high evidence)
WNT10A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Odontoonychodermal dysplasia 257980
  • Schopf-Schulz-Passarge syndrome 224750
Tags
Red Red List (low evidence)
AIRE
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
Tags
Red Red List (low evidence)
DSP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Tags
Red Red List (low evidence)
GJB2
2 reviews
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • clouston syndrome
Tags
Red Red List (low evidence)
IFT122
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
IFT43
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
KREMEN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ectodermal dysplasia 13, hair/tooth type, 617392
Tags
Red Red List (low evidence)
KRT74
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929
Tags
Red Red List (low evidence)
WDR19
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Asphyxiating thoracic dystrophy 5, 614376
  • Nephronophthisis 13, 614377
  • Cranioectodermal dysplasia 4, 614378
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
WDR35
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Short rib-polydactyly syndrome, type V, 614091
  • Cranioectodermal Dysplasia
Tags

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