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| Vascular Malformations_Somatic v1.7 | GNB2 | Zornitza Stark Marked gene: GNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v1.7 | GNB2 | Zornitza Stark Gene: gnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vascular Malformations_Somatic v1.7 | GNB2 |
Zornitza Stark gene: GNB2 was added gene: GNB2 was added to Vascular Malformations_Somatic. Sources: Literature somatic tags were added to gene: GNB2. Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB2 were set to 34124757 Phenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic Mode of pathogenicity for gene: GNB2 was set to Other Review for gene: GNB2 was set to RED Added comment: PMID: 34124757 Fjaer et al 2021 report 1 case of a patient with phenotypic features of Sturge–Weber syndrome (skin legion on left eyelid, nose and brow, mild intellectual disability, refractory eplipsy, left-sided leptomeningeal vascular malformation and atrophy, no eye abnormality) and a variant in GNB2 (NM_005273.3):c.232A>G:p.Lys78Glu, which was present in 6% of the reads from the lesional dermis and 21% of the reads in an endothelial culture from the biopsy, but only present at 0.15% of the reads in non-lesional dermis. The patient was negative for the GNAQ R183Q variant more frequently associated with Sturge–Weber syndrome. Sources: Literature |
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