Transplant Co-Morbidity Superpanel
Gene: HPS6
HPS6 (HPS6, biogenesis of lysosomal organelles complex 2 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 14 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hermansky-Pudlak syndrome 6, MIM# 614075
- MONDO:0013558
- OMIM
- 607522
- Clinvar variants
- Variants in HPS6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Ocular and Oculocutaneous Albinism
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Congenital nystagmus
- Cataract
- Prepair 500+
- Interstitial Lung Disease
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
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: HPS6 was added gene: HPS6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS6 were set to 12548288; 19843503; 17041891 Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558