Description
This panel is used for clinical indication 'R326 Vascular 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 'R326 Vascular skin disorders'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/563/?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).

4 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

35 Entities

35 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
ACVRL1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary haemorrhagic telengiectasia
Tags
Green Green List (high evidence)
ADAMTS13
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALAS2
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
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, 300752
Tags
Green Green List (high evidence)
ATM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia telengiectasia
Tags
Green Green List (high evidence)
CCBE1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hennekam lymphangiectasia-lymphoedema syndrome
Tags
Green Green List (high evidence)
ENG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary haemorrhagic telengiectasia
Tags
Green Green List (high evidence)
EPHB4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2, 618196
Tags
Green Green List (high evidence)
F12
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary angioedema
Tags
Green Green List (high evidence)
FECH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, 1
Tags
Green Green List (high evidence)
FLT4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Infantile haemangioma
  • Milroy disease
Tags
Green Green List (high evidence)
FOXC2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Lymphoedema-distichiasis syndrome
Tags
Green Green List (high evidence)
GLMN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Glomulovenous malformations
Tags
Green Green List (high evidence)
KRIT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS, 116860
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)
PIK3R2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, 603387
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)
SCN9A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythromyalgia
Tags
Green Green List (high evidence)
SMAD4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Tags
Green Green List (high evidence)
SOX18
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome
Tags
Green Green List (high evidence)
TEK
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Venous malformations
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
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
ATR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Cutaneous telangiectasia and cancer syndrome
Tags
Amber Amber List (moderate evidence)
PTEN
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Cowden syndrome 1, 158350
  • capillary venous malformations
Tags
Red Red List (low evidence)
AGGF1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to Klippel-Trenaunay-Weber syndrome
Tags
Red Red List (low evidence)
ANTXR1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to infantile haemangioma
Tags
Red Red List (low evidence)
AP3B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 2
Tags
Red Red List (low evidence)
CPO
1 review
Not set
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CPOX
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
IDH1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Tags
Red Red List (low evidence)
IDH2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Tags
Red Red List (low evidence)
KDR
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to infantile haemangioma
Tags
Red Red List (low evidence)
PPOX
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
VEGFA
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Association with POEMS syndrome
Tags
No list No list
GNA11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
Tags
No list No list
GNAQ
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
  • Sturge Weber syndrome
Tags

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