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Cerebral vascular malformations v0.0 WDR62 Zornitza Stark gene: WDR62 was added
gene: WDR62 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: WDR62 was set to
Phenotypes for gene: WDR62 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 VLDLR Zornitza Stark gene: VLDLR was added
gene: VLDLR was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: VLDLR was set to
Phenotypes for gene: VLDLR were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBG1 Zornitza Stark gene: TUBG1 was added
gene: TUBG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBG1 was set to
Phenotypes for gene: TUBG1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB3 Zornitza Stark gene: TUBB3 was added
gene: TUBB3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB3 was set to
Phenotypes for gene: TUBB3 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB2B Zornitza Stark gene: TUBB2B was added
gene: TUBB2B was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB2B was set to
Phenotypes for gene: TUBB2B were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB2A Zornitza Stark gene: TUBB2A was added
gene: TUBB2A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB2A was set to
Phenotypes for gene: TUBB2A were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBB Zornitza Stark gene: TUBB was added
gene: TUBB was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBB was set to
Phenotypes for gene: TUBB were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBA8 Zornitza Stark gene: TUBA8 was added
gene: TUBA8 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBA8 was set to
Phenotypes for gene: TUBA8 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TUBA1A Zornitza Stark gene: TUBA1A was added
gene: TUBA1A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TUBA1A was set to
Phenotypes for gene: TUBA1A were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TRAIP Zornitza Stark gene: TRAIP was added
gene: TRAIP was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAIP were set to 26595769
Phenotypes for gene: TRAIP were set to Seckel syndrome 9 616777
Cerebral vascular malformations v0.0 TMEM5 Zornitza Stark gene: TMEM5 was added
gene: TMEM5 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TMEM5 was set to
Phenotypes for gene: TMEM5 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 TGFBR2 Zornitza Stark gene: TGFBR2 was added
gene: TGFBR2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2 610168
Cerebral vascular malformations v0.0 TGFBR1 Zornitza Stark gene: TGFBR1 was added
gene: TGFBR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1 609192
Cerebral vascular malformations v0.0 TGFB2 Zornitza Stark gene: TGFB2 was added
gene: TGFB2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4 614816
Cerebral vascular malformations v0.0 TEK Zornitza Stark gene: TEK was added
gene: TEK was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal, 600195; Multiple Cutaneous and Mucosal Venous Malformations
Cerebral vascular malformations v0.0 STAMBP Zornitza Stark gene: STAMBP was added
gene: STAMBP was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome, 614261; Microcephaly-capillary malformation syndrome
Cerebral vascular malformations v0.0 SRPX2 Zornitza Stark gene: SRPX2 was added
gene: SRPX2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SRPX2 was set to
Phenotypes for gene: SRPX2 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 9674900
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900
Cerebral vascular malformations v0.0 SMAD3 Zornitza Stark gene: SMAD3 was added
gene: SMAD3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3 613795
Cerebral vascular malformations v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RTTN was set to
Phenotypes for gene: RTTN were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 RELN Zornitza Stark gene: RELN was added
gene: RELN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RELN was set to
Phenotypes for gene: RELN were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 21998596
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2 606744
Cerebral vascular malformations v0.0 PTEN Zornitza Stark gene: PTEN was added
gene: PTEN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba Syndrome
Cerebral vascular malformations v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POMT2 was set to
Phenotypes for gene: POMT2 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POMT1 was set to
Phenotypes for gene: POMT1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: POMGNT1 was set to
Phenotypes for gene: POMGNT1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 PIK3R2 Zornitza Stark gene: PIK3R2 was added
gene: PIK3R2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PIK3R2 was set to
Phenotypes for gene: PIK3R2 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 PIK3CA Zornitza Stark gene: PIK3CA was added
gene: PIK3CA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PIK3CA was set to
Phenotypes for gene: PIK3CA were set to Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 PAFAH1B1 Zornitza Stark gene: PAFAH1B1 was added
gene: PAFAH1B1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: PAFAH1B1 was set to
Phenotypes for gene: PAFAH1B1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OPHN1 was set to
Phenotypes for gene: OPHN1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: OCLN was set to
Phenotypes for gene: OCLN were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 NOTCH3 Zornitza Stark gene: NOTCH3 was added
gene: NOTCH3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NOTCH3 were set to 20301673; 8878478
Phenotypes for gene: NOTCH3 were set to 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)
Mode of pathogenicity for gene: NOTCH3 was set to Other - please provide details in the comments
Cerebral vascular malformations v0.0 NIN Zornitza Stark gene: NIN was added
gene: NIN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NIN were set to 22933543
Phenotypes for gene: NIN were set to Seckel syndrome 7 614851
Cerebral vascular malformations v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDE1 was set to
Phenotypes for gene: NDE1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 MEF2C Zornitza Stark gene: MEF2C was added
gene: MEF2C was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEF2C were set to 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
Cerebral vascular malformations v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LARGE1 was set to
Phenotypes for gene: LARGE1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMC3 was set to
Phenotypes for gene: LAMC3 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: LAMB1 was set to
Phenotypes for gene: LAMB1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 KDR Zornitza Stark gene: KDR was added
gene: KDR was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic; Hemangioma, capillary infantile, somatic, 602089; {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}
Cerebral vascular malformations v0.0 JAG1 Zornitza Stark gene: JAG1 was added
gene: JAG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JAG1 were set to 22759690
Phenotypes for gene: JAG1 were set to Alagille syndrome 1, 118450; Moyamoya disease
Cerebral vascular malformations v0.0 IL6 Zornitza Stark gene: IL6 was added
gene: IL6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: IL6 was set to
Phenotypes for gene: IL6 were set to {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}
Cerebral vascular malformations v0.0 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HTRA1 was set to Unknown
Phenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Moyamoya disease
Cerebral vascular malformations v0.0 HLA-DRB1 Zornitza Stark gene: HLA-DRB1 was added
gene: HLA-DRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLA-DRB1 was set to Unknown
Publications for gene: HLA-DRB1 were set to PMID: 7886716; 21349441
Phenotypes for gene: HLA-DRB1 were set to Moyamoya disease
Cerebral vascular malformations v0.0 HLA-DQB1 Zornitza Stark gene: HLA-DQB1 was added
gene: HLA-DQB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLA-DQB1 was set to Unknown
Publications for gene: HLA-DQB1 were set to PMID: 21349441; 9409445
Phenotypes for gene: HLA-DQB1 were set to Moyamoya disease
Cerebral vascular malformations v0.0 HLA-B Zornitza Stark gene: HLA-B was added
gene: HLA-B was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: HLA-B was set to Unknown
Publications for gene: HLA-B were set to 14676447; PMID: 21349441
Phenotypes for gene: HLA-B were set to Moyamoya disease
Cerebral vascular malformations v0.0 GNAQ Zornitza Stark gene: GNAQ was added
gene: GNAQ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GNAQ was set to
Phenotypes for gene: GNAQ were set to Cerebral diseases of vascular origin with epilepsy; Capillary malformations, congenital, 1, somatic, mosaic, 163000
Cerebral vascular malformations v0.0 GLMN Zornitza Stark gene: GLMN was added
gene: GLMN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLMN were set to Glomuvenous Malformation; Glomuvenous malformations
Cerebral vascular malformations v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GLA was set to Unknown
Phenotypes for gene: GLA were set to Moyamoya disease
Cerebral vascular malformations v0.0 FOXF1 Zornitza Stark gene: FOXF1 was added
gene: FOXF1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380; Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins
Cerebral vascular malformations v0.0 FLT4 Zornitza Stark gene: FLT4 was added
gene: FLT4 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FLT4 was set to
Phenotypes for gene: FLT4 were set to Hemangioma, capillary infantile, somatic; Hemangioma, capillary infantile, somatic, 602089
Cerebral vascular malformations v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan syndrome 154700
Cerebral vascular malformations v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ELN were set to 8460548
Phenotypes for gene: ELN were set to Moyamoya disease; Aneurysm, intracranial berry, 1 105800
Cerebral vascular malformations v0.0 DNA2 Zornitza Stark gene: DNA2 was added
gene: DNA2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNA2 were set to 24389050
Phenotypes for gene: DNA2 were set to Seckel syndrome 8 615807
Cerebral vascular malformations v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: DCX was set to
Phenotypes for gene: DCX were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CTSA was set to Unknown
Cerebral vascular malformations v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CRB1 were set to Pigmented Paravenous Chorioretinal Atrophy
Cerebral vascular malformations v0.0 COL4A2 Zornitza Stark gene: COL4A2 was added
gene: COL4A2 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL4A2 was set to
Phenotypes for gene: COL4A2 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to}
Cerebral vascular malformations v0.0 COL4A1 Zornitza Stark gene: COL4A1 was added
gene: COL4A1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to}
Cerebral vascular malformations v0.0 CEP63 Zornitza Stark gene: CEP63 was added
gene: CEP63 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP63 were set to 21983783
Phenotypes for gene: CEP63 were set to Seckel syndrome 6 614728
Cerebral vascular malformations v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Seckel syndrome 4 613676
Cerebral vascular malformations v0.0 BRCC3 Zornitza Stark gene: BRCC3 was added
gene: BRCC3 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: BRCC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: BRCC3 were set to 21596366
Phenotypes for gene: BRCC3 were set to Moyamoya disease
Cerebral vascular malformations v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ATP7A were set to Moyamoya disease
Cerebral vascular malformations v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ARX was set to
Phenotypes for gene: ARX were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ANTXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ANTXR1 were set to {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to}
Cerebral vascular malformations v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ADGRG1 was set to
Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders
Cerebral vascular malformations v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ACE was set to
Phenotypes for gene: ACE were set to {Stroke, hemorrhagic}
Cerebral vascular malformations v0.0 ABCC6 Zornitza Stark gene: ABCC6 was added
gene: ABCC6 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: ABCC6 was set to Unknown
Phenotypes for gene: ABCC6 were set to Moyamoya disease
Cerebral vascular malformations v0.0 THSD1 Zornitza Stark gene: THSD1 was added
gene: THSD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: THSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: THSD1 were set to 27895300
Phenotypes for gene: THSD1 were set to subarachnoid hemorrhage
Cerebral vascular malformations v0.0 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cerebral vascular malformations v0.0 PKD2 Zornitza Stark gene: PKD2 was added
gene: PKD2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PKD2 were set to Polycystic kidney disease 2 613095
Cerebral vascular malformations v0.0 PKD1 Zornitza Stark gene: PKD1 was added
gene: PKD1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I 173900
Cerebral vascular malformations v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 15368497
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II 210720; Moyamoya disease
Cerebral vascular malformations v0.0 NF1 Zornitza Stark gene: NF1 was added
gene: NF1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 10754001
Phenotypes for gene: NF1 were set to Moyamoya disease; Neurofibromatosis, type 1 162200
Cerebral vascular malformations v0.0 MYH11 Zornitza Stark gene: MYH11 was added
gene: MYH11 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH11 were set to 16444274; 29263223
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, 132900; moyamoya-like angiopath
Cerebral vascular malformations v0.0 MRVI1 Zornitza Stark gene: MRVI1 was added
gene: MRVI1 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: MRVI1 was set to Unknown
Cerebral vascular malformations v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HBB were set to 20301551
Phenotypes for gene: HBB were set to Sickle cell anemia 603903
Cerebral vascular malformations v0.0 GDF2 Zornitza Stark gene: GDF2 was added
gene: GDF2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral vascular malformations v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLVCR2 were set to 20206334
Phenotypes for gene: FLVCR2 were set to Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Cerebral vascular malformations v0.0 EPHB4 Zornitza Stark gene: EPHB4 was added
gene: EPHB4 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, 618196
Cerebral vascular malformations v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP152 were set to 21131973
Phenotypes for gene: CEP152 were set to Seckel syndrome 5 613823
Cerebral vascular malformations v0.0 CBL Zornitza Stark gene: CBL was added
gene: CBL was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 25283271; 28343148
Phenotypes for gene: CBL were set to early-onset moyamoya angiopathy; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563
Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebral vascular malformations v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATR were set to 12640452
Phenotypes for gene: ATR were set to Seckel syndrome 1 210600
Cerebral vascular malformations v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Cerebral vascular malformations. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA2 were set to 3471198, 25528372
Phenotypes for gene: ADA2 were set to Sneddon syndrome 182410; Polyarteritis nodosa
Cerebral vascular malformations v0.0 YY1AP1 Zornitza Stark gene: YY1AP1 was added
gene: YY1AP1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YY1AP1 were set to Grange syndrome, 602531
Cerebral vascular malformations v0.0 SMAD4 Zornitza Stark gene: SMAD4 was added
gene: SMAD4 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050
Cerebral vascular malformations v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC2A10 were set to 16550171
Phenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome
Cerebral vascular malformations v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAMHD1 were set to 20653736; 21402907
Phenotypes for gene: SAMHD1 were set to Moyamoya disease
Cerebral vascular malformations v0.0 RNF213 Zornitza Stark gene: RNF213 was added
gene: RNF213 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RNF213 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RNF213 were set to 21048783
Phenotypes for gene: RNF213 were set to {Moyamoya disease 2, susceptibility to}
Cerebral vascular malformations v0.0 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RASA1 were set to 14639529
Phenotypes for gene: RASA1 were set to Parkes Weber syndrome; Capillary malformation-arteriovenous malformation, 608354; Parkes Weber Syndrome; Parkes Weber syndrome (PKWS); Parkes Weber syndrome, 608355; Capillary Malformation-Arteriovenous Malformation Syndrome
Cerebral vascular malformations v0.0 PDCD10 Zornitza Stark gene: PDCD10 was added
gene: PDCD10 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDCD10 were set to 15543491; 20301470
Phenotypes for gene: PDCD10 were set to Cerebral Cavernous Malformations; Cerebral cavernous malformations 3; Cerebral cavernous malformations 3, 603285; Cerebral Cavernous Malformation; Familial Cerebral Cavernous Malformation
Mode of pathogenicity for gene: PDCD10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Cerebral vascular malformations v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRIT1 were set to 10508515; 20301470
Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations 1; Cerebral cavernous malformations-1, 116860; Cerebral Cavernous Malformations; Cerebral Cavernous Malformation; Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas; Familial Cerebral Cavernous Malformation; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860
Cerebral vascular malformations v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUCY1A3 were set to 24581742; 26777256
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia; Moyamoya 6 with achalasia, 615750
Cerebral vascular malformations v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ENG were set to 15024723; 20301525
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300
Cerebral vascular malformations v0.0 COL3A1 Zornitza Stark gene: COL3A1 was added
gene: COL3A1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, type IV 130050
Cerebral vascular malformations v0.0 CCM2 Zornitza Stark gene: CCM2 was added
gene: CCM2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCM2 were set to 14624391; 20301470
Phenotypes for gene: CCM2 were set to Cerebral cavernous malformations 2; Cerebral Cavernous Malformation; Capillary malformation-arteriovenous malformation 608354; Cerebral Cavernous Malformations
Cerebral vascular malformations v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376
Cerebral vascular malformations v0.0 ACTA2 Zornitza Stark gene: ACTA2 was added
gene: ACTA2 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to Multisystemic smooth muscle dysfunction syndrome,613834; Aortic aneurysm familial thoracic 6,611788; Moyamoya Disease; Moyamoya disease 5; Moyamoya disease 5,614042