Vascular skin disorders (Version 1.63)

The latest signed off version for the GMS is v1.3. The current version, shown here, may differ from the signed-off version.

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'.

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.

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
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

37 Entities

37 reviewed, 21 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 37 Entitiess
Green Green List (high evidence)	ACVRL1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376 Tags
Green Green List (high evidence)	ADAMTS13	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 Tags
Green Green List (high evidence)	ALAS2	4 reviews 2 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 Expert Review Green Phenotypes Protoporphyria, erythropoietic, X-linked, OMIM: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, OMIM:208900 Tags
Green Green List (high evidence)	CCBE1	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510 Tags Q1_24_demote_red Q1_24_expert_review
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 Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300 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, OMIM:618196 Tags
Green Green List (high evidence)	F12	4 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes Angioedema, hereditary, type III, OMIM:610618 Factor XII deficiency, OMIM:234000 Tags
Green Green List (high evidence)	FECH	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Protoporphyria, erythropoietic, 1, OMIM:177000 Tags
Green Green List (high evidence)	FLT4	5 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Hemangioma, capillary infantile, somatic, OMIM:602089 Tags Q1_24_demote_red Q1_24_expert_review somatic
Green Green List (high evidence)	FOXC2	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Lymphoedema-distichiasis syndrome, OMIM:153400 Tags Q1_24_demote_red Q1_24_expert_review
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, OMIM:138000 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 1, OMIM: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 malformation, MONDO:0024291 Tags
Green Green List (high evidence)	PIK3R2	4 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH NHS GMS Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM: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 1, OMIM:608354 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 Erythermalgia, primary, OMIM:133020 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, OMIM:175050 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, OMIM:607823 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940 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, multiple cutaneous and mucosal, OMIM:600195 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, infantile-onset, OMIM:615934 Tags new-gene-name
Amber Amber List (moderate evidence)	AKT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937) Tags Q3_23_promote_green
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, familial, OMIM:614564 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, OMIM:158350 capillary venous malformations Tags
Amber Amber List (moderate evidence)	STAMBP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Microcephaly-capillary malformation syndrome, OMIM:614261 Tags Q1_24_promote_green
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 {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089 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 curated_removed
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 curated_removed

Major version comments

2019-12-12 16:59 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.38) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Vascular skin disorders (Version 1.63)

7 reviewers

37 Entities

37 reviewed, 21 green

3 reviews

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