Multiple monogenic benign skin tumours (Version 2.4)

The latest signed off version for the GMS is v2.0. The current version, shown here, may differ from the signed-off version.

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'.

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.

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

Panel Activity

7 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
Eleanor Williams (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
Arina Puzriakova (Genomics England Curator)

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

Group: Other
Workplace: Other

46 Entities

46 reviewed, 6 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 46 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
Green Green List (high evidence)	PDGFRB	4 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Myofibromatosis, infantile, 1, OMIM:228550 myofibromatosis, infantile, 1, MONDO:0009227 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)	NOTCH3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes ?Myofibromatosis, infantile 2, OMIM:615293 myofibromatosis, infantile, 2, MONDO:0014122 Tags watchlist
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
Red Red List (low evidence)	PRDM10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Fibrofolliculoma, HP:0030436 lipomatosis, MONDO:0006574 renal cell carcinoma, MONDO:0005086 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	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

Major version comments

2022-11-30 14:44 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 17:28 Ellen McDonagh (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.14) was signed off under NHS Genomic Medicine Service governance on (12Dec/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Multiple monogenic benign skin tumours (Version 2.4)

7 reviewers

46 Entities

46 reviewed, 6 green

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