Rare genetic inflammatory skin disorders (Version 3.19)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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.

Panel Activity

10 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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

70 Entities

70 reviewed, 31 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 70 Entitiess
Green Green List (high evidence)	ADA2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 Tags
Green Green List (high evidence)	AIRE	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300 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, OMIM:617638 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, OMIM:173200 Psoriasis 2, OMIM:602723 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, MONDO:0018335 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, OMIM:243700 Tags
Green Green List (high evidence)	ECM1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Urbach-Wiethe disease, OMIM:247100 lipoid proteinosis, MONDO:0009530 Tags
Green Green List (high evidence)	EGFR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069 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, OMIM:616631 Tags
Green Green List (high evidence)	GJA1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 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, OMIM:133200 Tags
Green Green List (high evidence)	GJB4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 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 Interleukin 1 receptor antagonist deficiency, OMIM:612852 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 Psoriasis 14, pustular, OMIM:614204 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, OMIM:154800 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, OMIM:614714 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 ACNE INVERSA, FAMILIAL, 1, OMIM:142690 Tags
Green Green List (high evidence)	NLRP3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CINCA syndrome, OMIM:607115 Muckle-Wells syndrome, OMIM:191900 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, OMIM:186580 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, OMIM:308050 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, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250 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 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736 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, OMIM:603554 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, OMIM:603554 Tags
Green Green List (high evidence)	RNU12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes porokeratosis erythematous cutaneous eruption Tags currently-ngs-unreportable gene-checked
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 ?Chilblain lupus 2, OMIM:614415 AICARDI-GOUTIERES SYNDROME 5, OMIM:612952 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 FRANK-TER HAAR SYNDROME, OMIM:249420 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, OMIM:201100 Tags
Green Green List (high evidence)	STAT3	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hyper-IgE recurrent infection syndrome, OMIM:147060 Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952 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 STING-associated vasculopathy, infantile-onset, OMIM:615934 Tags new-gene-name
Green Green List (high evidence)	TREX1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750 Chilblain lupus, OMIM:610448 Tags
Amber Amber List (moderate evidence)	ABCC6	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes PSEUDOXANTHOMA ELASTICUM, OMIM:264800 Pseudoxanthoma elasticum, forme fruste, OMIM:177850 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)	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 Phenotypes ?Cutis laxa, autosomal dominant 2, OMIM:614434 Cutis laxa, autosomal recessive, type IA, OMIM:219100 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)	GNB1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 42, OMIM:616973 cutaneous mastocytosis, MONDO:0019023 Tags Q2_24_promote_green
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, OMIM:308300 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)	LTV1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199 Tags
Amber Amber List (moderate evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	NLRP1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes AIADK AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS Tags Q4_23_promote_green
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)	ADAMTS2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410 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)	COL1A1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	COL1A2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	COL3A1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	COL4A3	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	COL4A4	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Tags
Red Red List (low evidence)	COL4A5	3 reviews 1 red	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 Tags
Red Red List (low evidence)	COL5A1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Tags
Red Red List (low evidence)	COL5A2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red 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

Major version comments

2023-03-22 16:56 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 15:35 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-12 16:55 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
This panel was revised according to feedback from members of the the NHSE GMS Skin Disorders Specialist Test Group. The content of this panel (version 0.22 was signed off under NHS Genomic Medicine Service governance on (12/Dec/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Rare genetic inflammatory skin disorders (Version 3.19)

10 reviewers

70 Entities

70 reviewed, 31 green

3 reviews

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