Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R163 Ectodermal dysplasia' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R163 Ectodermal dysplasia'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel is also a constituent panel of super panel 'Skin disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel was originally created using genes and their overall ratings from the following panels:
- Ectodermal dysplasia without a known gene mutation (v1.15, code 136)
- Familial cicatricial alopecia (v1.1, code 305)
- Non-syndromic hypotrichosis (v1.1, code 189)

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • John McGrath (King's College London)

    Group: GeCIP domain
    Workplace: Research lab

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • John McGrath (KCL)

    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

  • Celia Moss (Birmingham Children's Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

71 Entities

71 reviewed, 28 green

List Entity Reviews Mode of inheritance Details
71 Entitiess
Green Green List (high evidence)
APCDD1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 1
  • non-syndromic hereditary hypotrichosis
  • Hypotrichosis 1, 605389
  • Hypotrichosis simplex (HS)
  • Hereditary hypotrichosis simplex (HHS)
Tags
Green Green List (high evidence)
CDH3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Tags
Green Green List (high evidence)
CDSN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • hypotrichosis simplex of the scalp
  • HYPT2
  • Hypotrichosis 2, 146520
Tags
Green Green List (high evidence)
DSG4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HYPT6
  • localized autosomal recessive hypotrichosis-1 (LAH1)
  • Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Localized AR Hypotrichosis
  • localized autosomal recessive hypotrichosis
  • Hypotrichosis 6, 607903
  • Hypotrichosis simplex (HS)
Tags
Green Green List (high evidence)
EDA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 1 hypohidrotic X-linked
  • Tooth agenesis, selective, X-linked 1, 313500
  • Hypohidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
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
  • Expert Review Green
Phenotypes
  • Hypohidrotic Ectodermal Dysplasia, Dominant
  • [Hair morphology 1, hair thickness], 612630
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
  • [Hair morphology 1, hair thickness], 612630 -3
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
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
  • Expert Review Green
Phenotypes
  • Hypohidrotic Ectodermal Dysplasia, Recessive
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Hypohidrotic ectodermal dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940
Tags
Green Green List (high evidence)
GJB6
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • Hidrotic Ectodermal Dysplasia
Tags
Green Green List (high evidence)
HOXC13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
Tags
Green Green List (high evidence)
HR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • HYPT4
  • Marie Unna hereditary hypotrichosis 1 (MUHH1)
  • Marie Unna hereditary hypotrichosis (MUHH)
  • Hypotrichosis 4, 146550
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
Phenotypes
  • Ectodermal Dysplasia, Hypohidrotic, With Immune Deficiency
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • {Atypical mycobacteriosis, familial}, 300636:Invasive pneumococcal disease, recurrent isolated, 2, 300640
  • Immunodeficiency, isolated, 300584
  • Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291
  • Incontinentia pigmenti, type II, 308300
Tags
Green Green List (high evidence)
KRT14
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome 161000
Tags
Green Green List (high evidence)
KRT74
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929
  • hypotrichosis simplex of the scalp
  • Hypotrichosis 3, 613981
  • HYPT3
Tags
Green Green List (high evidence)
KRT85
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, pure hair and nail type
  • Ectodermal dysplasia 4, hair/nail type, 602032
Tags
Green Green List (high evidence)
LIPH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 7, 604379
  • HYPT7
  • localized autosomal recessive hypotrichosis-2 (LAH2)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
Tags
Green Green List (high evidence)
LPAR6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 8
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
  • HYPT8
  • localized autosomal recessive hypotrichosis-3 (LAH3)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • Hypotrichosis 8, 278150
Tags
Green Green List (high evidence)
MBTPS2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • scarring alopecia
  • KFSDX
  • Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
Tags
Green Green List (high evidence)
MSX1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 3, Witkop type 189500
Tags
Green Green List (high evidence)
NECTIN1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1 613573
Tags
Green Green List (high evidence)
NFKB2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
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
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
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
  • Expert Review Green
Phenotypes
  • Focal dermal hypoplasia 305600
Tags
Green Green List (high evidence)
RMRP
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cartilage-hair hypoplasia 250250
Tags
Green Green List (high evidence)
TP63
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Limb-mammary syndrome, 603543
  • Rapp-Hodgkin Syndrome
  • ADULT syndrome, 103285
  • Orofac
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292
  • Ankyloblepharon-Ectodermal Defects-Cleft Lip/palate
  • Orofacial cleft 8, 129400
  • Hay-Wells syndrome, 106260
  • ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3
  • Split-Hand/foot Malformation 4
  • Split-hand/foot malformation 4, 605289
  • ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE
  • Rapp-Hodgkin syndrome, 129400
  • Limb-Mammary Syndrome
  • ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE
  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/palate Syndrome 3
  • Adult Syndrome
Tags
Green Green List (high evidence)
TSPEAR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Tags
Green Green List (high evidence)
WNT10A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schopf-Schulz-Passarge syndrome 224750
  • Odontoonychodermal dysplasia 257980
Tags
Amber Amber List (moderate evidence)
AR
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Androgen insensitivity, 300068
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • Hypospadias 1, X-linked, 300633
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
Tags
Amber Amber List (moderate evidence)
CREBBP
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849
Tags
Amber Amber List (moderate evidence)
DHX30
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
DHX40
1 review
Not set
Sources
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia
Tags
Amber Amber List (moderate evidence)
GJB2
3 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • clouston syndrome
  • Scarring alopecia
  • HID syndrome
Tags
Amber Amber List (moderate evidence)
GRHL2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
HLA-DRA
2 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • lichen planopilaris
  • progressive cicatricial (scarring) alopecia
  • Graham Little syndrome
  • Graham Little-Piccardi-Lassueur syndrome
Tags
Amber Amber List (moderate evidence)
KRT25
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Woolly hair, autosomal recessive 3, 616760
Tags
Amber Amber List (moderate evidence)
KRT71
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • hypotrichosis
  • ?Hypotrichosis 13, 615896
  • HYPT13
  • woolly hair
Tags
Amber Amber List (moderate evidence)
KRT81
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
KRT83
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
RSPO4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SDR9C7
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Tags
Amber Amber List (moderate evidence)
SNRPE
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Hypotrichosis 11, 615059
  • HYPT11
Tags
Amber Amber List (moderate evidence)
WNT7A
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Fuhrmann syndrome, 228930
Tags
Red Red List (low evidence)
ABCA12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, autosomal recessive 4B (harlequin), 242500
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
Tags
Red Red List (low evidence)
AIRE
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
Tags
Red Red List (low evidence)
ALOX12B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis
Tags
Red Red List (low evidence)
ALOXE3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 3, 606545
Tags
Red Red List (low evidence)
C2
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid (cutaneous) lupus
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
C5
1 review
Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
CERS3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 9, 615023
Tags
Red Red List (low evidence)
CLDN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
  • scarring alopecia
Tags
Red Red List (low evidence)
CYBB
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • CGD
  • Chronic granulomatous disease, X-linked, 306400
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
CYP4F22
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 5, 604777
Tags
Red Red List (low evidence)
DSC3
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hypotrichosis and recurrent skin vesicles disorder, 613102
  • HRSV
  • ?Hypotrichosis and recurrent skin vesicles, 613102
Tags
Red Red List (low evidence)
DSP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Tags
Red Red List (low evidence)
IFT122
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
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
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
ITGA6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia
  • EB-PA
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
  • scarring alopecia
Tags
Red Red List (low evidence)
ITGB4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730
  • EB-PA
  • scarring alopecia
Tags
Red Red List (low evidence)
KREMEN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ectodermal dysplasia 13, hair/tooth type, 617392
Tags
Red Red List (low evidence)
LIPN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 8, 613943
Tags
Red Red List (low evidence)
NIPAL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 6, 612281
Tags
Red Red List (low evidence)
PLEC
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PLEC-related Epidermolysis Bullosa
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • scarring alopecia
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
  • Epidermolysis bullosa simplex with pyloric atresia, 612138
Tags
Red Red List (low evidence)
PNPLA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
PPARG
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • lichen planopilaris
  • LPP
  • PCA
  • primary cicatricial alopecia
  • scarring alopecia
Tags
Red Red List (low evidence)
RPL21
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • HYPT12
  • Hypotrichosis 12, 615885
  • Hypotrichosis simplex (HS)
  • Hereditary hypotrichosis simplex (HHS)
Tags
Red Red List (low evidence)
ST14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, 602400
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
TGM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 1, 242300
Tags
Red Red List (low evidence)
TSPYL2
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
WDR19
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia 4, 614378
  • Cranioectodermal Dysplasia
  • Asphyxiating thoracic dystrophy 5, 614376
  • Nephronophthisis 13, 614377
Tags
Red Red List (low evidence)
WDR35
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Short rib-polydactyly syndrome, type V, 614091
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal Dysplasia
Tags

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