Monogenic diabetes

Gene: PSMB8

No list

PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
OMIM
177046
Clinvar variants
Variants in PSMB8
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to PSMB8. Rating Changed from Red List (low evidence) to No List (delete)

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PSMB8 was added gene: PSMB8 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040