HPS1

HPS1, biogenesis of lysosomal organelles complex 3 subunit 1
OMIM: 604982, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green HPS1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HPS1 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748
Green HPS1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748
Amber HPS1 in Cataract Level 2: Ophthalmological disorders Version 0.366	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1 (203300)
Green HPS1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HPS1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 Childhood pulmonary fibrosis
Green HPS1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748
Green HPS1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.57	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green HPS1 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300
Green HPS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 1, 203300 (3)
Green HPS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 1
Green HPS1 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 MONDO:0008748
Green HPS1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 1, 203300 (3)
Red HPS1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300
Green HPS1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MONDO:0008748 Hermansky-Pudlak syndrome 1, MIM# 203300
Green HPS1 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 1, 203300 (3)