Brain Calcification
Gene: PSMB8EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 8 panels
1 review
Yetong Chen (University of Melbourne)
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 listCreated: 24 Apr 2023, 2:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Proteasome-associated autoinflammatory syndrome 1 and digenic forms, MIM# 256040
- OMIM
- 177046
- Clinvar variants
- Variants in PSMB8
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmb8 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psmb8 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Yetong Chen (University of Melbourne)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