Description
This panel is used for clinical indication 'R230 Multiple monogenic benign skin tumours' 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 'R230 Multiple monogenic benign skin tumours'.

The content of this panel (version 1.3: https://panelapp.genomicsengland.co.uk/api/v1/panels/558/?version=1.3) 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.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

3 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

44 Entities

44 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
44 Entitiess
Green Green List (high evidence)
CYLD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
Tags
Green Green List (high evidence)
FLCN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Birt-Hogg-Dub syndrome, OMIM:135150
Tags
Green Green List (high evidence)
LEMD3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Osteopoikilosis with or without melorheostosis, OMIM:166700
  • BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
Tags
Green Green List (high evidence)
MLH1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Muir-Torre syndrome, OMIM:158320
Tags
Green Green List (high evidence)
MSH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Muir-Torre syndrome, OMIM:158320
Tags
Amber Amber List (moderate evidence)
MSH6
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Muir-Torre syndrome, MONDO:0008018
Tags
Amber Amber List (moderate evidence)
PMS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Muir-Torre syndrome, MONDO:0008018
Tags
No list No list
ACTRT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Bazex syndrome
Tags
  • curated_removed
No list No list
APC
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmoid disease
Tags
  • curated_removed
No list No list
BRAF
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanocytic naevi
  • Syringocystadenoma papilliferum
  • Cardio-facio-cutaneous syndrome
Tags
  • curated_removed
No list No list
CDK4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptibility
Tags
  • curated_removed
No list No list
CDKN2A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptibility
Tags
  • curated_removed
No list No list
CIB1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 3, 618267
Tags
  • curated_removed
No list No list
CTNNB1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Pilomatrixomas
Tags
  • curated_removed
No list No list
FGF23
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
  • curated_removed
No list No list
FGFR2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Beare-Stevenson cutis gyrata
Tags
  • curated_removed
No list No list
FGFR3
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Syringocystadenoma papilliferum
Tags
  • curated_removed
No list No list
GALNT3
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
  • curated_removed
No list No list
GLA
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Fabry disease
Tags
  • curated_removed
No list No list
HRAS
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Costello syndrome
  • Woolly hair
  • Phakomatosis pigmentokeratotica
  • Schimmelpenning syndrome
Tags
  • curated_removed
No list No list
IRF4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
Tags
  • curated_removed
No list No list
JAK2
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Myelofibrosis
Tags
  • curated_removed
No list No list
KRAS
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Schimmelpenning syndrome
Tags
  • curated_removed
No list No list
KRT17
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Steatocystoma multiplex
  • Pachyonychia congenita
Tags
  • curated_removed
No list No list
LEF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Sebaceous tumours
Tags
  • curated_removed
No list No list
MC1R
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to congenital melanocytic naevi
  • Pigmentation
  • Susceptibility to melanoma
  • Susceptibility to facial pigmented spots
Tags
  • curated_removed
No list No list
NF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurofibromatosis type I
Tags
  • curated_removed
No list No list
NRAS
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanocytic naevi
  • Noonan syndrome
  • Congenital melanocytic naevus syndrome
Tags
  • curated_removed
No list No list
PDGFRB
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile myofibromatosis
Tags
  • curated_removed
No list No list
PIK3CA
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Vascular malformations
  • PIK3CA-related overgrowth syndromes
Tags
  • curated_removed
No list No list
PORCN
1 review
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
  • Focal dermal hypoplasia,305600
Tags
  • curated_removed
No list No list
PRKAR1A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Carney complex
Tags
  • curated_removed
No list No list
PTCH1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed
No list No list
PTCH2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed
No list No list
PTEN
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Melanoma
  • Cowden syndrome
  • Bannayan-Riley-Ruvalcaba syndrome
Tags
  • curated_removed
No list No list
SAMD9
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
  • curated_removed
No list No list
SASH1
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyschromatosis (het)
  • Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
Tags
  • curated_removed
No list No list
STK11
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Peutz-Jeghers syndrome
Tags
  • curated_removed
No list No list
SUFU
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed
No list No list
TMC6
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • Epidermodysplasia verruciformis
Tags
  • curated_removed
No list No list
TMC8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 2, 618231
  • Epidermodysplasia verruciformis
Tags
  • curated_removed
No list No list
TSC1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
Tags
  • curated_removed
No list No list
TSC2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
Tags
  • curated_removed
No list No list
VDR
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to skin cancer
Tags
  • curated_removed

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