Insulin resistance (including lipodystrophy)

Gene: PSMB8

Red List (low evidence)

PSMB8 (proteasome subunit beta 8)
EnsemblGeneIds (GRCh38): ENSG00000204264
EnsemblGeneIds (GRCh37): ENSG00000204264
OMIM: 177046, Gene2Phenotype
PSMB8 is in 11 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Robert Semple (University of Cambridge)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Phenotype not relevant for this panel
Created: 11 Aug 2016, 11:22 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
OMIM
177046
Clinvar variants
Variants in PSMB8
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PSMB8 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PSMB8 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PSMB8 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PSMB8 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PSMB8 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen