Description
Familial hidradenitis suppurativa eligibility statement:

Familial hidradenitis suppurativa inclusion criteria
Clinical diagnosis of hidradenitis suppurativa, AND
Two or more additional relatives over two generations or more consistent with autosomal dominant inheritance.
At least two additional relatives should be available for recruitment.

Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Familial hidradenitis suppurativa exclusion criteria
Acne vulgaris or nodulocystic acne as an isolated clinical feature

Prior genetic testing guidance
- 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 hidradenitis suppurativa prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
No genes specified.

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

2 reviewers

  • John McGrath (KCL)

    Group: GeCIP domain
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

11 Entities

11 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
NCSTN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acne inversa, familial, 1, 142690
  • hidradenitis suppurativa
Tags
Green Green List (high evidence)
PSEN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acne inversa, familial, 3, 613737
Tags
Green Green List (high evidence)
PSENEN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Acne inversa, familial, 2, 613736
  • Acne inversa (AI)
  • hidradenitis suppurativa
Tags
Amber Amber List (moderate evidence)
FGFR2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nevus comedonicus, multifocal hidradenitis suppurativa and acne
Tags
Amber Amber List (moderate evidence)
GJB2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)
Tags
Amber Amber List (moderate evidence)
PSTPIP1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • pyoderma gangrenosum, acne, and Hidradenitis suppurativa (PASH syndrome)
  • pyoderma gangrenosum, acne, pyogenic arthritis, and Hidradenitis suppurativa (PAPASH syndrome)
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (PAPA syndrome)
Tags
  • promoter
Red Red List (low evidence)
IL12RB1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • modification of hidradenitis suppurativa phenotype
Tags
Red Red List (low evidence)
IL22
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • acne inversa (AI)
Tags
Red Red List (low evidence)
KRT17
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Pachyonychia congenita 2, 167210
  • pachyonychia congenita with hidradenitis suppurativa
Tags
Red Red List (low evidence)
MEFV
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mediterranean fever with hidradenitis suppurativa
  • Familial Mediterranean fever, AD, 134610
  • Familial Mediterranean fever, AR, 249100
Tags
Red Red List (low evidence)
TNF
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • predisposition to hidradenitis suppurativa
Tags
  • promoter

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