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| Cerebral vascular malformations v1.4 | KEL | Zornitza Stark Marked gene: KEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v1.4 | KEL | Zornitza Stark Gene: kel has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v1.4 | KEL |
Zornitza Stark gene: KEL was added gene: KEL was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: KEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KEL were set to 30578106; 37978175 Phenotypes for gene: KEL were set to vein of Galen aneurysm, MONDO:0015196 Review for gene: KEL was set to RED Added comment: PMID:37978175 reported a cohort of 114 probands with radiographically confirmed vein of Galen malformations (VOGMs), which is the most common and most severe of congenital brain arteriovenous malformations. This includes 55 cases already reported in PMID:30578106. Of these cases, only two were identified with variants in KEL gene (p.(Gln321Ter) & p.(Gly202Ser)).There is no functional evidence or segregation evidence available. Sources: Literature |
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| Cerebral vascular malformations v0.39 | CENPJ | Sangavi Sivagnanasundram reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.39 | CEP152 | Sangavi Sivagnanasundram reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.39 | ATR | Sangavi Sivagnanasundram reviewed gene: ATR: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome 1 MONDO:0008869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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| 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 |
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