HPS4

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
OMIM: 606682, ClinGen, DECIPHER

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green HPS4 in Vasculitis Level 2: Immunological disorders Version 0.86	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HPS4 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556
Green HPS4 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556
Amber HPS4 in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4 (614073)
Green HPS4 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.122 Component of the following Super Panels: Immunological disorders_SuperPanel	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green HPS4 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 Childhood pulmonary fibrosis
Green HPS4 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556
Green HPS4 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.84	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green HPS4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 4, 614073 (3)
Green HPS4 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 4
Green HPS4 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556
Green HPS4 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 4, MIM #614073
Red HPS4 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073
Green HPS4 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 MONDO:0013556
Green HPS4 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hermansky-Pudlak syndrome 4, 614073 (3)