Description
This panel is used for clinical indication 'R332 Rare genetic inflammatory skin disorders' 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 'R332 Rare genetic inflammatory skin disorders'.

The content of this panel (version 1.6: https://panelapp.genomicsengland.co.uk/api/v1/panels/565/?version=1.6) was signed off under NHS Genomic Medicine Service governance on (15/10/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number. 

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

5 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

66 Entities

66 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
66 Entitiess
Green Green List (high evidence)
ADA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • VAIHS (Polyarteritis nodosa)
  • Polyarteritis nodosa
  • VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Tags
Green Green List (high evidence)
AIRE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
  • APS1
Tags
Green Green List (high evidence)
CARD11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis
Tags
Green Green List (high evidence)
CARD14
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pityriasis rubra pilaris
  • susceptibility to psoriasis
Tags
Green Green List (high evidence)
CARD9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Deep dermatophytosis
Tags
Green Green List (high evidence)
DOCK8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive
Tags
Green Green List (high evidence)
EGFR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • NISBD2
  • INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
Tags
Green Green List (high evidence)
FDPS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • POROKERATOSIS 9, MULTIPLE TYPES
Tags
Green Green List (high evidence)
GJA1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
  • EKVP3
Tags
Green Green List (high evidence)
GJB3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1
  • Erythrokeratodermia variabilis
Tags
Green Green List (high evidence)
GJB4
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2
  • Erythrokeratodermia variabilis
Tags
Green Green List (high evidence)
IL1RN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS
  • OMPP
  • Recurrent pustular psoriasis
Tags
Green Green List (high evidence)
IL36RN
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PSORS14
  • PSORIASIS 14, PUSTULAR
  • Recurrent pustular psoriasis
Tags
Green Green List (high evidence)
KIT
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MASTOCYTOSIS, CUTANEOUS
  • Mast cell disease
  • Piebaldism
  • MASTC
Tags
Green Green List (high evidence)
MVD
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • POROKERATOSIS 7, MULTIPLE TYPES
  • POROK7
Tags
Green Green List (high evidence)
NCSTN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • ACNINV1
  • ACNE INVERSA, FAMILIAL, 1
Tags
Green Green List (high evidence)
NLRP3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CINCA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1
  • CINCA SYNDROME
  • FCAS1
Tags
Green Green List (high evidence)
NOD2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Blau syndrome
  • BLAU SYNDROME
  • BLAUS
Tags
Green Green List (high evidence)
NSDHL
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
  • London North GLH
  • NHS GMS
Phenotypes
  • CHILD syndrome
  • CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
Tags
Green Green List (high evidence)
OSMR
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyloidosis cutis
  • PLCA1
  • AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
Tags
Green Green List (high evidence)
PSENEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ACNINV2
  • ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
Tags
Green Green List (high evidence)
RAG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • OMENN SYNDROME
  • Omenn syndrome
Tags
Green Green List (high evidence)
RAG2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • OMENN SYNDROME
  • Omenn syndrome
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Chillblain lupus
  • Aicardi-Goutieres syndrome
  • AGS5, CHILBLAIN LUPUS 2
  • AICARDI-GOUTIERES SYNDROME 5
  • CHBL2
Tags
Green Green List (high evidence)
SH3PXD2B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Borrone dermato-cardio-skeletal syndrome
  • FTHS
  • FRANK-TER HAAR SYNDROME
Tags
Green Green List (high evidence)
SLC39A4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Acrodermatitis enteropathica
  • ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
  • AEZ
Tags
Green Green List (high evidence)
STAT3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • HyperIgE syndrome
  • ADMIO1
  • HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
  • HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
TMEM173
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • SAVI
  • STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
  • STING-associated vasculopathy
Tags
  • new-gene-name
Green Green List (high evidence)
TREX1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Chillblain lupus
  • AGS1, CHILBLAIN LUPUS 1
  • Aicardi-Goutieres syndrome
  • AICARDI-GOUTIERES SYNDROME 1
  • CHBL1
Tags
Amber Amber List (moderate evidence)
ABCC6
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PSEUDOXANTHOMA ELASTICUM
  • PXE
Tags
Amber Amber List (moderate evidence)
ADAMTS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
AGPAT2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ANTXR2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATP6V0A2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATP7A
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATP7B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL1A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL1A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL3A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL4A3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL4A4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL4A5
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 Amber
Tags
Amber Amber List (moderate evidence)
COL5A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
COL5A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
CSTA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • susceptibility to psoriasis
  • Exfoliative ichthyosis/acral peeling skin syndrome
  • susceptility to atopic dermatitis
Tags
Amber Amber List (moderate evidence)
CYBB
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Chillblain lupus
  • Discoid lupus erythematosus
Tags
Amber Amber List (moderate evidence)
DCLRE1C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Omenn syndrome
Tags
Amber Amber List (moderate evidence)
EFEMP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ELN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FBLN5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FGF23
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FLG
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Eczema
  • Ichthyosis vulgaris 146700
  • Ichthyosis vulgaris
Tags
Amber Amber List (moderate evidence)
FLT4
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FMO3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FOXC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
GALNT3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
GGCX
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
Tags
Amber Amber List (moderate evidence)
IKBKG
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Incontinentia pigmenti
  • Incontinentia pigmenti, Ectodermal dysplasia
Tags
Amber Amber List (moderate evidence)
KRT1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis histrix
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
Tags
Amber Amber List (moderate evidence)
KRT10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichythosis with confetti
  • Pachyonychia congenita
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
Tags
Amber Amber List (moderate evidence)
LYST
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
NLRP1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • AIADK
  • AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
Tags
Amber Amber List (moderate evidence)
PSEN1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • ACNE INVERSA, FAMILIAL, 3
  • ACNINV3
Tags
Red Red List (low evidence)
AGPS
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Photoallergic dermatitis
Tags
Red Red List (low evidence)
EDA
2 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Tags
Red Red List (low evidence)
XYLT2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Scleroderma
Tags

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