PanelApp (test)
  1. Panels
  2. Cerebral vascular malformations
Description
This panel is maintained by VCGS, with thanks to the Genomics England PanelApp team for original design.

It contains genes associated with:
Vein of Galen malformation
Cerebral vascular malformations
Moyamoya disease
Panel Activity

8 reviewers

  • Natasha Brown (Victorian Clinical Genetics Services)

  • Sue White (Victorian Clinical Genetics Services)

  • Nicola Fearn (Royal Children's Hospital)

  • Suliman Khan (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

103 Entities

14 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
103 Entitiess
Green Green List (high evidence)
ACTA2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Multisystemic smooth muscle dysfunction syndrome,613834
  • Aortic aneurysm familial thoracic 6,611788
  • Moyamoya Disease
  • Moyamoya disease 5
  • Moyamoya disease 5,614042
Tags
Green Green List (high evidence)
ACVRL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2 600376
Tags
Green Green List (high evidence)
ANGPTL6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cerebral aneurysm
Tags
Green Green List (high evidence)
CBL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • early-onset moyamoya angiopathy
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Tags
Green Green List (high evidence)
CCM2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral cavernous malformations 2
  • Cerebral Cavernous Malformation
  • Capillary malformation-arteriovenous malformation 608354
  • Cerebral Cavernous Malformations
Tags
Green Green List (high evidence)
COL3A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ehlers-Danlos syndrome, type IV 130050
Tags
Green Green List (high evidence)
COL4A1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773
  • Brain small vessel disease with or without ocular anomalies, MIM# 175780
Tags
Green Green List (high evidence)
ENG
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1 187300
Tags
Green Green List (high evidence)
GUCY1A3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Moyamoya 6 with achalasia
  • Moyamoya 6 with achalasia, 615750
Tags
Green Green List (high evidence)
KRIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cavernous malformations of CNS and retina, 116860
  • Cerebral cavernous malformations-1, 116860
  • Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Tags
  • founder
Green Green List (high evidence)
PDCD10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral Cavernous Malformations
  • Cerebral cavernous malformations 3
  • Cerebral cavernous malformations 3, 603285
  • Cerebral Cavernous Malformation
  • Familial Cerebral Cavernous Malformation
Tags
Green Green List (high evidence)
PDGFRB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • aneurysm
  • scoliosis
  • atrophic skin
  • stroke
  • infantile myofibromatosis
Tags
  • somatic
Green Green List (high evidence)
PIK3CA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral cavernous malformations 4, MIM#619538
Tags
  • somatic
Green Green List (high evidence)
RASA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Parkes Weber syndrome
  • Capillary malformation-arteriovenous malformation, 608354
  • Parkes Weber Syndrome
  • Parkes Weber syndrome (PKWS)
  • Parkes Weber syndrome, 608355
  • Capillary Malformation-Arteriovenous Malformation Syndrome
Tags
Green Green List (high evidence)
RNF213
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • susceptibility to Moyamoya disease 2, (MIM# 607151)
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Green Green List (high evidence)
SLC2A10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 208050
  • Moyamoya disease
  • Arterial tortuosity syndrome
Tags
Green Green List (high evidence)
SMAD4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Tags
Green Green List (high evidence)
YY1AP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Grange syndrome, 602531
Tags
Amber Amber List (moderate evidence)
ADA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Sneddon syndrome 182410
  • Polyarteritis nodosa
Tags
Amber Amber List (moderate evidence)
ANO1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moyamoya disease 7, MIM# 620687
Tags
Amber Amber List (moderate evidence)
ATR
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 1 210600
Tags
Amber Amber List (moderate evidence)
CEP152
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 5 613823
Tags
Amber Amber List (moderate evidence)
CHD4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Sifrim-Hitz-Weiss syndrome, MIM# 617159
Tags
Amber Amber List (moderate evidence)
CNOT3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, MIM# 618672
Tags
Amber Amber List (moderate evidence)
EPHB4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, 618196
Tags
Amber Amber List (moderate evidence)
FLVCR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Tags
Amber Amber List (moderate evidence)
HBB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Sickle cell anemia 603903
Tags
Amber Amber List (moderate evidence)
MRVI1
0 reviews
 Unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Tags
Amber Amber List (moderate evidence)
MYH11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Aortic aneurysm, familial thoracic 4, 132900
  • moyamoya-like angiopath
Tags
Amber Amber List (moderate evidence)
NF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
  • Neurofibromatosis, type 1 162200
Tags
Amber Amber List (moderate evidence)
PCNT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Microcephalic osteodysplastic primordial dwarfism, type II 210720
  • Moyamoya disease
Tags
Amber Amber List (moderate evidence)
PKD1
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Polycystic kidney disease, adult type I 173900
Tags
Amber Amber List (moderate evidence)
PKD2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Polycystic kidney disease 2 613095
Tags
Amber Amber List (moderate evidence)
SETD5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Moya Moya
  • Mental retardation, autosomal dominant 23, MIM# 615761
Tags
Amber Amber List (moderate evidence)
SMAD9
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Tags
Amber Amber List (moderate evidence)
THSD1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • subarachnoid hemorrhage
Tags
Red Red List (low evidence)
ABCC6
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
ACE
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • {Stroke, hemorrhagic}
Tags
Red Red List (low evidence)
ADGRG1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
ANTXR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
Tags
Red Red List (low evidence)
ARX
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
ATP7A
0 reviews
 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
  • Genomics England PanelApp
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 Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
CENPJ
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 4 613676
Tags
Red Red List (low evidence)
CEP63
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 6 614728
Tags
Red Red List (low evidence)
COL4A2
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • {Hemorrhage, intracerebral, susceptibility to}, 614519
  • {Hemorrhage, intracerebral, susceptibility to}
Tags
Red Red List (low evidence)
CRB1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Pigmented Paravenous Chorioretinal Atrophy
Tags
Red Red List (low evidence)
CTSA
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Tags
Red Red List (low evidence)
DCX
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
DNA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 8 615807
Tags
Red Red List (low evidence)
ELN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
  • Aneurysm, intracranial berry, 1 105800
Tags
Red Red List (low evidence)
FBN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Marfan syndrome 154700
Tags
Red Red List (low evidence)
FLT4
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hemangioma, capillary infantile, somatic
  • Hemangioma, capillary infantile, somatic, 602089
Tags
Red Red List (low evidence)
FOXF1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380
  • Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Tags
Red Red List (low evidence)
GDF2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 5, MIM# 615506
Tags
Red Red List (low evidence)
GLA
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
GLMN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Glomuvenous Malformation
  • Glomuvenous malformations
Tags
Red Red List (low evidence)
GNAQ
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral diseases of vascular origin with epilepsy
  • Capillary malformations, congenital, 1, somatic, mosaic, 163000
Tags
Red Red List (low evidence)
HLA-B
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
HLA-DQB1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
HLA-DRB1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Moyamoya disease
Tags
Red Red List (low evidence)
HTRA1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779
  • Moyamoya disease
Tags
Red Red List (low evidence)
IL6
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
Tags
Red Red List (low evidence)
JAG1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Alagille syndrome 1, 118450
  • Moyamoya disease
Tags
Red Red List (low evidence)
KDR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Hemangioma, capillary infantile, somatic
  • Hemangioma, capillary infantile, somatic, 602089
  • {Hemangioma, capillary infantile, susceptibility to}, 602089
  • {Hemangioma, capillary infantile, susceptibility to}
Tags
Red Red List (low evidence)
LAMB1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
LAMC3
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
LARGE1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
MEF2C
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
  • Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations
  • Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443
Tags
Red Red List (low evidence)
NDE1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
NIN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 7 614851
Tags
Red Red List (low evidence)
NOTCH3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy (CADASIL)
  • Moyamoya disease
  • Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310
  • Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
Tags
Red Red List (low evidence)
OCLN
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
OPHN1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
PAFAH1B1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
PIK3R2
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
POMGNT1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
POMT1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
POMT2
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
PTEN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Bannayan-Riley-Ruvalcaba Syndrome
Tags
Red Red List (low evidence)
RBBP8
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 2 606744
Tags
Red Red List (low evidence)
RELN
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
RTTN
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
SMAD3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Loeys-Dietz syndrome 3 613795
Tags
Red Red List (low evidence)
SMARCAL1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
Red Red List (low evidence)
SRPX2
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
STAMBP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Microcephaly-capillary malformation syndrome, 614261
  • Microcephaly-capillary malformation syndrome
Tags
Red Red List (low evidence)
TEK
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, 600195
  • Multiple Cutaneous and Mucosal Venous Malformations
Tags
Red Red List (low evidence)
TGFB2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Loeys-Dietz syndrome 4 614816
Tags
Red Red List (low evidence)
TGFBR1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Loeys-Dietz syndrome 1 609192
Tags
Red Red List (low evidence)
TGFBR2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Loeys-Dietz syndrome 2 610168
Tags
Red Red List (low evidence)
TMEM5
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TRAIP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Seckel syndrome 9 616777
Tags
Red Red List (low evidence)
TUBA1A
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBA8
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB2A
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB2B
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBB3
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
TUBG1
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
VLDLR
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags
Red Red List (low evidence)
WDR62
0 reviews
 Not set
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cerebral Malformation Disorders
Tags

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