PanelApp (test)
  1. Panels
  2. Ectodermal Dysplasia
Description
This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.

This is a consensus panel used by RMH and VCGS.

Please refer to the Hair Disorders panel for disorders primarily affecting hair.
Panel Activity

14 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Eleanor Williams (Genomics England)

  • Danielle Ariti (University of Melbourne)

  • Chirag Patel (Genetic Health Queensland)

  • Achchuthan Shanmugasundram (Genomics England)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

55 Entities

47 reviewed, 48 green

List Entity Reviews Mode of inheritance Details
55 Entitiess
Green Green List (high evidence)
ANAPC1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Rothmund-Thomson syndrome, type 1 MIM#618625
  • MONDO:0016368
Tags
  • deep intronic
Green Green List (high evidence)
ANTXR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • GAPO syndrome, MIM# 230740
Tags
Green Green List (high evidence)
BCS1L
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Bjornstad syndrome MIM#262000
Tags
Green Green List (high evidence)
CDH3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280
  • Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Tags
Green Green List (high evidence)
CST6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Tags
Green Green List (high evidence)
CTNND1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharocheilodontic syndrome 2 MIM#617681
Tags
Green Green List (high evidence)
CTSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Haim-Munk syndrome MIM#245010
  • Papillon-Lefevre syndrome MIM#245000
Tags
Green Green List (high evidence)
DSP
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis, Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Keratosis palmoplantaris striata II, Epidermolysis bullosa, lethal acantholytic
Tags
Green Green List (high evidence)
EDA
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, MIM# 305100
  • MONDO:0010585
Tags
Green Green List (high evidence)
EDAR
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, MIM# 129490
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, MIM# 224900
Tags
Green Green List (high evidence)
EDARADD
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia, anhidrotic, autosomal recessive, Ectodermal dysplasia, anhidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal dominant, Ectodermal dysplasia, hypohidrotic, autosomal recessive
Tags
Green Green List (high evidence)
ERCC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Trichothiodystrophy 1, photosensitive, MIM# 601675
Tags
Green Green List (high evidence)
EVC
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ellis-van Creveld syndrome, MIM# 225500
  • Weyers acrofacial dysostosis, MIM# 193530
Tags
Green Green List (high evidence)
EVC2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Ellis-van Creveld syndrome, Weyers acrodental dysostosis
Tags
Green Green List (high evidence)
FOSL2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Aplasia cutis-enamel dysplasia syndrome, MIM# 620789
Tags
Green Green List (high evidence)
GJB2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Deafness, Bart-Pumphrey syndrome, Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome, Hystrix-like ichthyosis with deafness, Keratitis-icthyosis-deafness syndrome
Tags
Green Green List (high evidence)
GJB6
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Deafness, Deafness, autosomal dominant 3B, Ectodermal dysplasia, hidrotic (Clouston syndrome)
Tags
Green Green List (high evidence)
GRHL2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia/short stature syndrome MIM#616029
Tags
Green Green List (high evidence)
HOXC13
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type MIM#614931
Tags
Green Green List (high evidence)
HR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Alopecia universalis MIM#203655
  • Atrichia with papular lesions MIM#209500
Tags
Green Green List (high evidence)
IFT122
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2
Tags
Green Green List (high evidence)
IKBKG
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 1 MIM3300291
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301
  • Incontinentia pigmenti MIM#308300
Tags
Green Green List (high evidence)
JUP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, Naxos disease
Tags
Green Green List (high evidence)
KDF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • ?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
Tags
Green Green List (high evidence)
KRT14
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome MIM#161000
  • Dermatopathia pigmentosa reticularis MIM#125595
Tags
Green Green List (high evidence)
KRT85
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 4, hair/nail type, 602032
Tags
Green Green List (high evidence)
LEF1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, LEF1-related
Tags
Green Green List (high evidence)
LRP6
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Tooth agenesis, selective, 7
Tags
Green Green List (high evidence)
LSS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alopecia-mental retardation syndrome 4 MIM#618840
  • Hypotrichosis 14 MIM#618275
Tags
Green Green List (high evidence)
MAP3K20
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic disease, MONDO:0002254, MAP3K20-related
Tags
Green Green List (high evidence)
MBTPS2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • IFAP syndrome with or without BRESHECK syndrome MIM#308205
Tags
Green Green List (high evidence)
MPLKIP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive
Tags
Green Green List (high evidence)
MSX1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 3, Witkop type, 189500
Tags
Green Green List (high evidence)
NECTIN1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060
Tags
Green Green List (high evidence)
NECTIN4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1
Tags
Green Green List (high evidence)
NFKB2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Immunodeficiency, common variable, 10 MIM#615577
Tags
Green Green List (high evidence)
NFKBIA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 2 MIM#612132
Tags
Green Green List (high evidence)
PAX9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Tooth agenesis, selective, 3
Tags
Green Green List (high evidence)
PKP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome MIM#604536
Tags
Green Green List (high evidence)
PORCN
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Focal dermal hypoplasia, MIM# 305600
Tags
Green Green List (high evidence)
PRKD1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, MIM# 617364
Tags
Green Green List (high evidence)
RIPK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CHAND syndrome, OMIM:214350
  • Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650
  • ectodermal dysplasia syndrome, MONDO:0019287
Tags
Green Green List (high evidence)
RMRP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia
Tags
Green Green List (high evidence)
ST14
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11 MIM#602400
Tags
Green Green List (high evidence)
TP63
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Rapp-Hodgkin syndrome, Orofacial cleft, ADULT syndrome, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, Ankyloblepharon-ectodermal defects-cleft lip/palate, Split-hand/foot malformation, Limb-mammary syndrome
Tags
Green Green List (high evidence)
TSPEAR
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Tags
Green Green List (high evidence)
WDR35
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Short rib-polydactyly syndrome type 5
Tags
Green Green List (high evidence)
WNT10A
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Odontoonychodermal dysplasia, Tooth agenesis, selective, Schopf-Schulz-Passarge syndrome
Tags
Amber Amber List (moderate evidence)
AXIN2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Oligodontia-colorectal cancer syndrome, MIM# 608615
Tags
Amber Amber List (moderate evidence)
IFT43
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cranioectodermal dysplasia 3 MIM#614099
Tags
Amber Amber List (moderate evidence)
KREMEN1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Ectodermal dysplasia 13, hair/tooth type, 617392
Tags
Amber Amber List (moderate evidence)
TUFT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Woolly hair-skin fragility syndrome, MIM# 620415
Tags
Red Red List (low evidence)
CHD1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Pilarowski-Bjornsson syndrome MIM#617682
Tags
Red Red List (low evidence)
ENAM
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Amelogenesis imperfecta, type IB, MIM# 104500
  • Amelogenesis imperfecta, type IC, MIM# 204650
Tags
Red Red List (low evidence)
KRT74
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • ?Ectodermal dysplasia 7, hair/nail type, 614929
Tags

Downloads

Download lists

Download Version