Mosaic skin disorders - deep sequencing
Gene: GNB2Comment on list classification: Upgraded rating from Red to Amber in line with review by Tom Cullup (GOSH) to facilitate further gathering of data where appropriate which could potentially support future promotion to Green.Created: 1 Nov 2023, 12:08 p.m. | Last Modified: 1 Nov 2023, 12:08 p.m.
Panel Version: 2.41
Insufficient cases reported for green status, but good candidate for causative gene an important to have ability to collect data in Sturge-Weber green panel negative cases.Created: 9 May 2023, 10:41 a.m. | Last Modified: 9 May 2023, 10:41 a.m.
Panel Version: 2.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Sturge-Weber syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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: LiteratureCreated: 3 Nov 2021, 2:11 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Publications
Gene: gnb2 has been classified as Amber List (Moderate Evidence).
gene: GNB2 was added gene: GNB2 was added to Mosaic skin disorders - deep sequencing. Sources: Literature somatic tags were added to gene: GNB2. Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNB2 were set to 34124757 Phenotypes for gene: GNB2 were set to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300 Review for gene: GNB2 was set to RED