Description
This panel has been created as a placeholder for a new panel in development.

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 is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local 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

  • 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, 25 green

List Entity Reviews Mode of inheritance Details
35 Entitiess
Green Green List (high evidence)
ACVRL1
1 review
1 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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALAS2
1 review
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 Review
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, 300752
Tags
Green Green List (high evidence)
ATM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Ataxia telengiectasia
Tags
Green Green List (high evidence)
ATR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cutaneous telangiectasia and cancer syndrome
Tags
Green Green List (high evidence)
CCBE1
1 review
1 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
1 review
1 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
1 review
1 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
1 review
1 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
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FLT4
1 review
1 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
1 review
1 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
1 review
1 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)
GNA11
1 review
1 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)
GNAQ
1 review
1 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)
KDR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to infantile haemangioma
Tags
Green Green List (high evidence)
KRIT1
1 review
1 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
1 review
1 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
1 review
1 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
1 review
1 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
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythromyalgia
Tags
Green Green List (high evidence)
SMAD4
1 review
1 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
1 review
1 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
1 review
1 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
2 reviews
1 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)
AP3B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
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)
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)
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

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