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  2. Familial cicatricial alopecia

Familial cicatricial alopecia (Version 1.6)

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders

Panel types: Rare Disease 100K
Previous code: 568e844522c1fc1c78b67156
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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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.
Panel Activity

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 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 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 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 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 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 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 List (low evidence)
C2
1 review
 Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
  • discoid (cutaneous) lupus
Tags
Red List (low evidence)
C5
1 review
 Not set
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
Tags
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 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 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 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 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 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 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 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 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 List (low evidence)
PLEC
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487
  • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Tags
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 List (low evidence)
PPARG
1 review
 Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • scarring alopecia
  • primary cicatricial alopecia
  • PCA
  • lichen planopilaris
  • LPP
Tags
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 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 List (low evidence)
TSPYL2
1 review
 Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
Tags
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, OMIM:601705
Tags
  • curated_removed
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, OMIM:104100
Tags
  • curated_removed

Major version comments

  • 20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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