| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.81 | GNAS | Zornitza Stark Marked gene: GNAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.81 | GNAS | Zornitza Stark Gene: gnas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.81 | GNAS | Zornitza Stark Classified gene: GNAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.81 | GNAS | Zornitza Stark Gene: gnas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | GNAS |
Yetong Chen gene: GNAS was added gene: GNAS was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: GNAS were set to 28296742; 35600030; 20444925 Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ib, MIM# 603233 Review for gene: GNAS was set to GREEN Added comment: The imprinting of GNAS is complex. While GNAS is primarily expressed from the maternal allele, only the paternal allele is expressed in some tissues. Although the number of cases is limited, patients are reported by different authors across the years. PMID 28296742 reports 2 patients from the same family, who had the same GNAS variant (p.P115S, p.V340M), and developed brain calcification. PMID 35600030 reports a patient with a rare GNAS variant who developed bilateral basal ganglia calcification. PMID 20444925 reports 2 patients from the same family who developed brain calcification. The patients had broad epigenetic defects at the GNAS gene and a deletion that exclusively affects exons encoding the antisense transcript (delAS3-4). The deletion is suspected to partially influence the imprinting of some GNAS loci. Sources: Expert list |
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