The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Cerebral vascular malformations (Version 3.16)

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Cerebrovascular disorders, Vein of Galen malformation, Cerebral arteriovenous malformations, Moyamoya disease, R336
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off
Latest signed off version: v3.0 (22 Mar 2023)
Previously signed off versions: v2.2
Previous code: 5819a24f8f6203341de99c89

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R336 Cerebral vascular malformations' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R336 Cerebral vascular malformations'.

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.

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.

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

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This is a combined gene panel for the following disorders:
- Vein of Galen malformation
- Cerebral vascular malformations
- Moyamoya disease

Panel Activity

12 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (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
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Andrey Gagunashvili (UCL Great Ormond Street Institute of Child Health)

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

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

Group: Other
Workplace: Other

105 Entities

105 reviewed, 15 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 105 Entitiess
Green Green List (high evidence)	ACTA2	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Moyamoya disease 5, OMIM:614042 Tags
Green Green List (high evidence)	ACVRL1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, OMIM 600376 Tags
Green Green List (high evidence)	ANGPTL6	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes brain aneurysm MONDO:0005291 Tags gene-checked
Green Green List (high evidence)	CCM2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral cavernous malformations-2, OMIM:603284 Tags
Green Green List (high evidence)	COL3A1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Ehlers-Danlos syndrome, vascular type, OMIM:130050 Tags
Green Green List (high evidence)	ENG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300 Tags
Green Green List (high evidence)	GUCY1A3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Moyamoya 6 with achalasia, OMIM:615750 Tags new-gene-name
Green Green List (high evidence)	KRIT1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Cerebral cavernous malformations-1, OMIM:116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860 Cavernous malformations of CNS and retina, OMIM:116860 Tags
Green Green List (high evidence)	PDCD10	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Cerebral cavernous malformations 3, OMIM:603285 Tags
Green Green List (high evidence)	RASA1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Capillary malformation-arteriovenous malformation 1, OMIM:608354 Tags
Green Green List (high evidence)	RNF213	3 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Other Yorkshire and North East GLH Phenotypes {Moyamoya disease 2, susceptibility to}, OMIM:607151 Tags
Green Green List (high evidence)	SAMHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease, MONDO:0016820 Tags
Green Green List (high evidence)	SLC2A10	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Arterial tortuosity syndrome, OMIM:208050 Tags
Green Green List (high evidence)	SMAD4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Green NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050 Tags
Green Green List (high evidence)	YY1AP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Grange syndrome, OMIM:602531 Tags
Amber Amber List (moderate evidence)	ADA2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes ?Sneddon syndrome, OMIM:182410 Polyarteritis nodosa, MONDO:0019170 Tags
Amber Amber List (moderate evidence)	ATR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Seckel syndrome 1, OMIM:210600 Tags
Amber Amber List (moderate evidence)	CBL	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Research Yorkshire and North East GLH Phenotypes early-onset moyamoya angiopathy moyamoya disease, MONDO:0016820 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 Tags
Amber Amber List (moderate evidence)	CEP152	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Seckel syndrome 5, OMIM:613823 Tags
Amber Amber List (moderate evidence)	CHD4	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease MONDO:0016820 Sifrim-Hitz-Weiss syndrome OMIM:617159 Sifrim-Hitz-Weiss syndrome MONDO:0014946 Tags to_be_confirmed_NHSE watchlist
Amber Amber List (moderate evidence)	CNOT3	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease MONDO:0016820 Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672 intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864 Tags to_be_confirmed_NHSE
Amber Amber List (moderate evidence)	COL5A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Ehlers-Danlos syndrome, classic type, 1, OMIM:130000 Fibromuscular dysplasia, multifocal, OMIM:619329 Tags Q2_24_promote_green
Amber Amber List (moderate evidence)	EPHB4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Capillary malformation-arteriovenous malformation 2, OMIM:618196 Tags
Amber Amber List (moderate evidence)	FLVCR2	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790 Tags
Amber Amber List (moderate evidence)	GDF2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 Tags
Amber Amber List (moderate evidence)	HBB	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Amber Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Sickle cell anemia, OMIM:603903 Tags gene-therapy-trial
Amber Amber List (moderate evidence)	MRVI1	2 reviews	Unknown	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Tags new-gene-name
Amber Amber List (moderate evidence)	MYH11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Yorkshire and North East GLH Phenotypes moyamoya-like angiopath Aortic aneurysm, familial thoracic 4, OMIM:132900 Tags
Amber Amber List (moderate evidence)	NF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease, MONDO:0016820 Neurofibromatosis, type 1, OMIM:162200 Tags
Amber Amber List (moderate evidence)	PCNT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease, MONDO:0016820 Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 Tags
Amber Amber List (moderate evidence)	PKD1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Polycystic kidney disease, adult type I, OMIM:173900 Tags
Amber Amber List (moderate evidence)	PKD2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Amber NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Polycystic kidney disease 2, OMIM:613095 Tags
Amber Amber List (moderate evidence)	SETD5	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Moyamoya disease MONDO:0016820 Mental retardation, autosomal dominant 23 OMIM:615761 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336 Tags to_be_confirmed_NHSE watchlist
Amber Amber List (moderate evidence)	SMAD9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Yorkshire and North East GLH Tags
Amber Amber List (moderate evidence)	THSD1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature NHS GMS Yorkshire and North East GLH Phenotypes subarachnoid hemorrhage Tags
Red Red List (low evidence)	ABCC6	1 review 1 red	Unknown	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	ACE	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Other Yorkshire and North East GLH Phenotypes {Stroke, hemorrhagic} Tags
Red Red List (low evidence)	ADGRG1	2 reviews 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	ANTXR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes {?Hemangioma, capillary infantile, susceptibility to} , OMIM:602089 Tags
Red Red List (low evidence)	ARX	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	ATP7A	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 list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	BRCC3	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 list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	CENPJ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Literature NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Seckel syndrome 4 613676 Tags
Red Red List (low evidence)	CEP63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Yorkshire and North East GLH Phenotypes Seckel syndrome 6 614728 Tags
Red Red List (low evidence)	COL4A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes {Hemorrhage, intracerebral, susceptibility to}, 614519 Brain Small Vessel Disease with Hemorrhage {Hemorrhage, intracerebral, susceptibility to} Brain small vessel disease with or without ocular anomalies Tags
Red Red List (low evidence)	COL4A2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes {Hemorrhage, intracerebral, susceptibility to}, 614519 {Hemorrhage, intracerebral, susceptibility to} Tags
Red Red List (low evidence)	CRB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Yorkshire and North East GLH Phenotypes Pigmented Paravenous Chorioretinal Atrophy Tags
Red Red List (low evidence)	CTSA	1 review 1 red	Unknown	Sources Expert list NHS GMS Yorkshire and North East GLH Tags
Red Red List (low evidence)	DCX	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 Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Lissencephaly, X-linked, OMIM:300067 Subcortical laminal heterotopia, X-linked, OMIM:300067 Tags
Red Red List (low evidence)	DNA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Yorkshire and North East GLH Phenotypes Seckel syndrome 8, OMIM:615807 Tags
Red Red List (low evidence)	ELN	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Aneurysm, intracranial berry, 1 105800 Tags
Red Red List (low evidence)	FBN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Marfan syndrome 154700 Tags
Red Red List (low evidence)	FLT4	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Hemangioma, capillary infantile, somatic, 602089 Hemangioma, capillary infantile, somatic Tags
Red Red List (low evidence)	FOXF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Tags
Red Red List (low evidence)	GLA	1 review 1 red	Unknown	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	GLMN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Glomuvenous malformations Glomuvenous Malformation Tags
Red Red List (low evidence)	GNAQ	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Cerebral diseases of vascular origin with epilepsy Capillary malformations, congenital, 1, somatic, mosaic, 163000 Tags currently-ngs-unreportable mosaicism
Red Red List (low evidence)	HLA-B	2 reviews 1 red	Unknown	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	HLA-DQB1	2 reviews	Unknown	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	HLA-DRB1	2 reviews	Unknown	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Moyamoya disease Tags
Red Red List (low evidence)	HTRA1	1 review 1 red	Unknown	Sources Expert list Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Moyamoya disease Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 Tags
Red Red List (low evidence)	IL6	1 review 1 red	Not set	Sources Expert Review Red NHS GMS Other Yorkshire and North East GLH Phenotypes {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to} Tags
Red Red List (low evidence)	JAG1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes Alagille syndrome 1, OMIM:118450 Moyamoya disease Tags
Red Red List (low evidence)	KDR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Hemangioma, capillary infantile, somatic, 602089 {Hemangioma, capillary infantile, susceptibility to}, 602089 {Hemangioma, capillary infantile, susceptibility to} Hemangioma, capillary infantile, somatic Hemangioma, capillary infantile, somatic, 602089 Tags
Red Red List (low evidence)	LAMB1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	LAMC3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	LARGE1	3 reviews 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	MEF2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations Tags
Red Red List (low evidence)	NDE1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	NIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Seckel syndrome 7 614851 Tags
Red Red List (low evidence)	NOTCH3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 Tags
Red Red List (low evidence)	OCLN	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	OPHN1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	PAFAH1B1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Lissencephaly 1, OMIM:607432 Subcortical laminar heterotopia, OMIM:607432 Tags
Red Red List (low evidence)	PIK3CA	3 reviews 1 green 1 red	Other	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Cerebral cavernous malformations 4, somatic, OMIM:619538 Tags somatic
Red Red List (low evidence)	PIK3R2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	POMGNT1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	POMT1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	POMT2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	PTEN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Bannayan-Riley-Ruvalcaba Syndrome Tags
Red Red List (low evidence)	RBBP8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Yorkshire and North East GLH Phenotypes Seckel syndrome 2 606744 Tags
Red Red List (low evidence)	RELN	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	RTTN	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	SMAD3	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Loeys-Dietz syndrome 3 613795 Tags
Red Red List (low evidence)	SMARCAL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Schimke immunoosseous dysplasia, OMIM:242900 Tags
Red Red List (low evidence)	SRPX2	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	STAMBP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Other Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Microcephaly-capillary malformation syndrome, 614261 Microcephaly-capillary malformation syndrome Tags
Red Red List (low evidence)	TEK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen Yorkshire and North East GLH Phenotypes Venous malformations, multiple cutaneous and mucosal, 600195 Multiple Cutaneous and Mucosal Venous Malformations Tags
Red Red List (low evidence)	TGFB2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Loeys-Dietz syndrome 4 614816 Tags
Red Red List (low evidence)	TGFBR1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Loeys-Dietz syndrome 1 609192 Tags
Red Red List (low evidence)	TGFBR2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert Review Red Illumina TruGenome Clinical Sequencing Services NHS GMS Radboud University Medical Center, Nijmegen UKGTN Yorkshire and North East GLH Phenotypes Loeys-Dietz syndrome 2 610168 Tags
Red Red List (low evidence)	TMEM5	2 reviews 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags new-gene-name
Red Red List (low evidence)	TRAIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature NHS GMS Yorkshire and North East GLH Phenotypes Seckel syndrome 9, OMIM:616777 Tags
Red Red List (low evidence)	TUBA1A	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TUBA8	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TUBB	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TUBB2A	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cortical dysplasia, complex, with other brain malformations 5, OMIM:615763 Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 Tags
Red Red List (low evidence)	TUBB2B	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TUBB3	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	TUBG1	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	VLDLR	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
Red Red List (low evidence)	WDR62	1 review 1 red	Not set	Sources Expert Review Red NHS GMS UKGTN Yorkshire and North East GLH Phenotypes Cerebral Malformation Disorders Tags
No list No list	ANIB1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Other Phenotypes Aneurysm, intracranial berry, 1 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list No list	MYMY1	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes Moyamoya disease Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list No list	MYMY3	3 reviews 1 red	Unknown	Sources Expert Review Removed Other Phenotypes Moyamoya disease 3 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only

Major version comments

2023-03-22 15:15 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
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 (3.0) following this.

2019-12-11 11:35 Louise Daugherty (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.70) was signed off under NHS Genomic Medicine Service governance on (11/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

Promoted to version 1 on the 19th December 2016

Cerebral vascular malformations (Version 3.16)

12 reviewers

105 Entities

105 reviewed, 15 green

4 reviews

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3 reviews

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3 reviews

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3 reviews

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3 reviews

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3 reviews

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5 reviews

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1 review

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3 reviews

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5 reviews

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2 reviews

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