| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.73 | PSMB8 | Zornitza Stark Marked gene: PSMB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.73 | PSMB8 | Zornitza Stark Gene: psmb8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.73 | PSMB8 | Zornitza Stark Classified gene: PSMB8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.73 | PSMB8 | Zornitza Stark Gene: psmb8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | PSMB8 |
Yetong Chen gene: PSMB8 was added gene: PSMB8 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSMB8 were set to 28895430; 23768303 Phenotypes for gene: PSMB8 were set to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040 Review for gene: PSMB8 was set to RED Added comment: Insufficient evidence supports the causal role of the PSMB8 gene in brain calcification. PMID 28895430 report a patient with homozygous PSMB8 variants (p.A92T) who developed basal ganglia calcification. PMID 23768303 reports a patient with heterozygous PSMB8 variants (p.A92T/p.T75M) who had brain calcification. Sources: Expert list |
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