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'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/564/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (19/02/2020).

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.

This panel is also a constituent panel of super panel 'Skin disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

3 reviewers

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

46 Entities

46 reviewed, 26 green

List Entity Reviews Mode of inheritance Details
46 Entitiess
Green 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 Green List (high evidence)
AKT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Proteus syndrome
Tags
Green 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 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 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 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
Green Green List (high evidence)
GNAQ
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
  • Sturge Weber syndrome
Tags
Green 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
Tags
Green 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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
Amber Amber List (moderate evidence)
ATP2A2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FGFR2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Epdermal naevi
Tags
Amber Amber List (moderate evidence)
IKBKG
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
  • Other
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 1, 300291
  • Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301
  • Incontinentia pigmenti, 308300
Tags
Amber Amber List (moderate evidence)
MVD
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Linear porokeratosis
Tags
Amber Amber List (moderate evidence)
PMVK
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Linear porokeratosis
Tags
Amber Amber List (moderate evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome
  • Noonan syndrome with lentigines (LEOPARD)
Tags
Amber Amber List (moderate evidence)
TEK
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, 600195
Tags
Red Red List (low evidence)
CARD14
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ILVEN (submitted 2 cases)
Tags
No list No list
AKT2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Overgrowth syndrome (not always mosaic in this case)
Tags
No list No list
AKT3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Overgrowth syndrome (not always mosaic in this case)
Tags
No list 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
No list 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
No list 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
No list No list
KITLG
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Progressive hyper- and hypopigmentation
  • Blaschko-linear hypopigmentation
Tags
No list No list
MVK
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Actinic porokeratosis
  • porokeratosis of Mibelli
Tags
No list No list
NDUFB11
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
No list 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
Tags
No list 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
No list 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
No list 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

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