Autoinflammatory Disorders
Gene: PSMA5EnsemblGeneIds (GRCh38): ENSG00000143106
EnsemblGeneIds (GRCh37): ENSG00000143106
OMIM: 176844, Gene2Phenotype
PSMA5 is in 2 panels
1 review
Peter McNaughton (Queensland Children's Hospital)
Single patient with heterozygous PSMB8 variant and de-novo PSMA5 truncating variant (p.Arg168*) with clinical features of CANDLE. Patient also had splice site variant in PSMC5. In silico modelling showing interaction of PSMB8 and PSMA5. PSMA5/a5 is a constitutive component of the 20S core proteasome, ? digenic model of disease.
Sources: LiteratureCreated: 23 Aug 2023, 4:23 a.m.
Mode of inheritance
Other
Phenotypes
PRAAS/CANDLE
Publications
- PMID: 37600812
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Phenotypes
-
- Inborn error of immunity, MONDO:0003778, PSMA5-related
- PRAAS/CANDLE
- OMIM
- 176844
- Clinvar variants
- Variants in PSMA5
- Penetrance
- None
- Publications
-
- PMID: 37600812
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psma5 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PSMA5 were changed from PRAAS/CANDLE to Inborn error of immunity, MONDO:0003778, PSMA5-related; PRAAS/CANDLE
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: psma5 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Peter McNaughton (Queensland Children's Hospital)gene: PSMA5 was added gene: PSMA5 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PSMA5 was set to Other Publications for gene: PSMA5 were set to PMID: 37600812 Phenotypes for gene: PSMA5 were set to PRAAS/CANDLE Review for gene: PSMA5 was set to RED