Insulin resistance (including lipodystrophy)
Gene: PSMB8
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Phenotype not relevant for this panelCreated: 11 Aug 2016, 11:22 a.m.
Phenotypes for gene: PSMB8 were changed from Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 to Proteasome-associated autoinflammatory syndrome 1 and digenic forms, OMIM:256040; Autoinflammation, lipodystrophy, and dermatosis syndrome
Promoted to version 1 12/08/2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene PSMB8 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PSMB8 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene PSMB8 was changed to BIALLELIC, autosomal or pseudoautosomal
PSMB8 was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
PSMB8 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen