Description
Eligibility statement for Familial cicatricial alopecia (36588):

Familial cicatricial alopecia inclusion criteria (36591)
•	Cicatricial alopecia diagnosed by a consultant dermatologist
•	Family history of cicatricial alopecia in at least one first or second degree relative

Familial cicatricial alopecia exclusion criteria (36591)

Prior genetic testing guidance (36591)
- 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.

Familial cicatricial alopecia prior genetic testing genes (36591)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes listed

Closing statement (36591)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • 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

25 Entities

25 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
25 Entitiess
Green Green List (high evidence)
MBTPS2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
  • KFSDX
  • scarring alopecia
Tags
Amber Amber List (moderate evidence)
HLA-DRA
2 reviews
Unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Graham Little-Piccardi-Lassueur syndrome
  • Graham Little syndrome
  • lichen planopilaris
  • progressive cicatricial (scarring) alopecia
Tags
Amber Amber List (moderate evidence)
SDR9C7
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Tags
Red Red List (low evidence)
ABCA12
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
  • Ichthyosis, autosomal recessive 4B (harlequin), 242500
  • Lamellar ichthyosis
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
ALOX12B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
ALOXE3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, 606545
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
C2
1 review
Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
  • discoid (cutaneous) lupus
Tags
Red Red List (low evidence)
C5
1 review
Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
CERS3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
CLDN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Radboud University Medical Center, Nijmegen
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
  • Other
Phenotypes
  • Chronic granulomatous disease, X-linked, 306400
  • CGD
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
CYP4F22
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, 604777
  • Lamellar ichthyosis
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
GJB2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • HID syndrome
  • Scarring alopecia
Tags
Red Red List (low evidence)
ITGA6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia
  • EB-PA
  • scarring alopecia
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
Tags
Red Red List (low evidence)
ITGB4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia
  • EB-PA
  • scarring alopecia
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730
Tags
Red Red List (low evidence)
LIPN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, 613943
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
Tags
Red Red List (low evidence)
NIPAL4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, 612281
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
Tags
Red Red List (low evidence)
PLEC
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • PLEC-related Epidermolysis Bullosa
  • Epidermolysis bullosa simplex with pyloric atresia, 612138
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • scarring alopecia
Tags
Red Red List (low evidence)
PNPLA1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
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
  • Literature
Phenotypes
  • scarring alopecia
  • primary cicatricial alopecia
  • PCA
  • lichen planopilaris
  • LPP
Tags
Red Red List (low evidence)
ST14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
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
  • Other
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
Tags
Red Red List (low evidence)
TSPYL2
1 review
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
Tags
No list No list
FOXN1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705
  • Alopecia and T-Cell Immunodeficiency
  • congenital severe combined immunodeficiency associated with alopecia
Tags
No list No list
GJA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Palmoplantar keratoderma with congenital alopecia, 104100
Tags

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