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Transplant Co-Morbidity Superpanel

Gene: HPS5

Green List (high evidence)

HPS5 (HPS5, biogenesis of lysosomal organelles complex 2 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000110756
EnsemblGeneIds (GRCh37): ENSG00000110756
OMIM: 607521, Gene2Phenotype
HPS5 is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 5 (MIM#614074)
OMIM
607521
Clinvar variants
Variants in HPS5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: HPS5 was added gene: HPS5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS5 were set to 28296950; 32725903 Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5 (MIM#614074)