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

Mosaic skin disorders - deep sequencing (Version 3.27)

Level 2: Dermatology

Relevant disorders: R327
Panel types: GMS Rare Disease, GMS signed-off
Latest signed off version: v3.0 (30 Apr 2025)
Previously signed off versions: v2.0, v1.3

Description

This panel is used for clinical indication 'R327 Mosaic skin disorders - deep sequencing' 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 'R327 Mosaic skin disorders - deep sequencing'.

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

9 reviewers

Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Veronica Kinsler (UCL)

Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
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
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

60 Entities

60 reviewed, 39 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 60 Entitiess
Green List (high evidence)	ACTB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Tags
Green List (high evidence)	AKT1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Proteus syndrome Tags
Green List (high evidence)	AKT3	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937 Tags
Green List (high evidence)	ATP2A2	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Segmental Darier disease OMIM:124200 Darier-White disease OMIM:124200 Acrokeratosis verruciformis, OMIM:101900 Tags
Green List (high evidence)	BRAF	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Melanocytic naevus syndrome, OMIM:137550 Vascular malformations Noonan syndrome 7 (MIM 613706) LEOPARD syndrome 3 , OMIM:613707 Cardio-facio-cutaneous syndrome 1, OMIM:115150 Tags
Green List (high evidence)	FGFR1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epidermal naevi Tags
Green List (high evidence)	FGFR2	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Keratinocytic epidermal naevi (KENs) Naevoid acanthosis nigricans RAVEN (round and velvety epidermal naevus) Tags somatic
Green List (high evidence)	FGFR3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Syringocystadenoma papilliferum Epidermal naevi Tags
Green List (high evidence)	GJA4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Cutaneous and hepatic vascular lesions (no OMIM phenotype) Tags gene-checked recurrent-variant
Green List (high evidence)	GNA11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Phakomatosis pigmentovascularis Extensive dermal melanocytosis Tags
Green List (high evidence)	GNA14	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Tufted angioma Kaposiform endothelioma Tags gene-checked
Green List (high evidence)	GNAQ	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Phakomatosis pigmentovascularis Extensive dermal melanocytosis Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Tags
Green List (high evidence)	GNAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes McCune-Albright syndrome, somatic, mosaic, OMIM:174800 panostotic fibrous dysplasia, MONDO:0043168 Tags
Green List (high evidence)	HRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Woolly hair Phakomatosis pigmentokeratotica Costello syndrome Schimmelpenning syndrome Epidermal naevi Tags
Green List (high evidence)	IDH1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ollier disease Maffucci syndrome Tags
Green List (high evidence)	IDH2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Ollier disease Maffucci syndrome Tags
Green List (high evidence)	IKBKG	4 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 NHS GMS Other Phenotypes Incontinentia pigmenti, OMIM:308300 Tags somatic
Green List (high evidence)	KRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Schimmelpenning syndrome Epidermal naevi Tags
Green List (high evidence)	KRT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epidermolytic hyperkeratosis Palmoplantar keratoderma Ichthyosis histrix Tags
Green List (high evidence)	KRT10	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Epidermolytic hyperkeratosis Palmoplantar keratoderma Ichythosis with confetti Pachyonychia congenita Tags
Green List (high evidence)	MAP2K1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Cardio-facio-cutaneous syndrome Tags
Green List (high evidence)	MAP3K3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Verrucous haemangiomas Tags
Green List (high evidence)	MTOR	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hypomelanosis of Ito/Blaschko-linear hypopigmentation Tags
Green List (high evidence)	MVD	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Porokeratosis 7, multiple types, OMIM:614714 Tags
Green List (high evidence)	NEK9	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Nevus comedonicus, somatic, OMIM:617025 Tags somatic
Green List (high evidence)	NF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Neurofibromatosis type I Tags
Green List (high evidence)	NF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes NEUROFIBROMATOSIS, TYPE II NF2 Tags
Green List (high evidence)	NRAS	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Congenital melanocytic naevus syndrome Melanocytic naevi Noonan syndrome Tags
Green List (high evidence)	PIK3CA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes PIK3CA-related overgrowth syndromes Vascular malformations Tags
Green List (high evidence)	PIK3R1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Vascular malformation and overgrowth Tags
Green List (high evidence)	PORCN	3 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 Other Phenotypes Focal dermal hypoplasia, OMIM:305600 focal dermal hypoplasia, MONDO:0010592 Tags mosaicism
Green List (high evidence)	PTCH1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green NHS GMS Phenotypes Basal cell nevus syndrome 1, OMIM:109400 Basal cell carcinoma, somatic, OMIM:605462 Gorlin syndrome Tags mosaicism somatic
Green List (high evidence)	PTEN	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Bannayan-Riley-Ruvalcaba syndrome Cowden syndrome Epidermal naevi Melanoma Tags
Green List (high evidence)	PTPN11	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Phakomatosis pigmentovascularis (PPV), MONDO:0017318 LEOPARD syndrome 1, OMIM:151100 Speckled lentiginous naevus syndrome (deletion) Tags
Green List (high evidence)	RASA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Capillary malformation-arteriovenous malformation syndrome Tags
Green List (high evidence)	RHOA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes Blaschko-linear hypopigmentation syndrome Tags
Green List (high evidence)	SMO	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Curry-Jones syndrome Tags
Green List (high evidence)	SPRED1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Legius syndrome Tags
Green List (high evidence)	TEK	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Phenotypes Venous malformations, multiple cutaneous and mucosal, OMIM:600195 Unifocal and multifocal sporadic venous malformations Blue rubber bleb naevus Tags somatic
Amber List (moderate evidence)	ARAF	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Amber Phenotypes central conducting lymphatic anomaly Tags gene-checked treatable
Amber List (moderate evidence)	CARD14	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes inflammatory linear verrucous epidermal nevus, MONDO:0019318 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	EGFR	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes nonepidermolytic keratinocytic epidermal naevus Tags
Amber List (moderate evidence)	EPHB4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Capillary malformation-arteriovenous malformation 2, OMIM:618196 Tags watchlist
Amber List (moderate evidence)	GNB2	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Tags somatic
Amber List (moderate evidence)	KITLG	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Linear and whorled nevoid hypermelanosis (LWNH) Hyperpigmentation with or without hypopigmentation, OMIM:145250 Tags watchlist
Amber List (moderate evidence)	MVK	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS Phenotypes Porokeratosis 3, multiple types, OMIM:175900 porokeratosis 3, disseminated superficial actinic type, MONDO:0008293 Tags Q4_25_promote_green
Amber List (moderate evidence)	PMVK	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Phenotypes inflammatory linear verrucous epidermal nevus, MONDO:0019318 Porokeratosis 1, multiple types OMIM:175800 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	TP63	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292 Tags Q4_25_expert_review Q4_25_NHS_review Q4_25_promote_green somatic
Amber List (moderate evidence)	TSC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Tuberous sclerosis-1, OMIM:191100 tuberous sclerosis 1, MONDO:0008612 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	TSC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Tuberous sclerosis-2, OMIM: 613254 tuberous sclerosis 2, MONDO:0013199 Tags Q4_25_NHS_review Q4_25_promote_green
Red List (low evidence)	GJA1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Red Phenotypes inflammatory linear verrucous epidermal nevus, MONDO:0019318 Tags
No list	AKT2	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900 Tags curated_removed
No list	COX7B	2 reviews 1 green 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 Removed London North GLH NHS GMS Phenotypes Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) Tags curated_removed
No list	HCCS	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) Tags curated_removed
No list	JAK2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Myelofibrosis Tags curated_removed
No list	NDUFB11	2 reviews 1 green 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 Removed London North GLH NHS GMS Phenotypes Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism) Tags curated_removed
No list	NOD2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Blau syndrome, OMIM:186580 Tags curated_removed
No list	TERT	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Melanoma Dyskeratosis congenita Tags curated_removed
No list	TYR	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Oculocutaneous albinism Tags curated_removed
No list	TYRP1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Oculocutaneous albinism Tags curated_removed

Major version comments

2025-04-30 16:36 Eleanor Williams (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 14:17 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 17:31 Catherine Snow (Genomics England) promoted panel to 1.0
The content of this panel (version 0.23) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1) as a result of this.

Mosaic skin disorders - deep sequencing (Version 3.27)

9 reviewers

60 Entities

60 reviewed, 39 green

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