HPS4

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
OMIM: 606682, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green HPS4 in Ocular and oculo-cutaneous albinism Version 1.23	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Hermansky-Pudlak syndrome 4
Green HPS4 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Hermansky-Pudlak syndrome 4 614073
Green HPS4 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Hermansky-Pudlak syndrome 4 614073
Green HPS4 in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH GOSH PID v.8.0 NHS GMS North West GLH Expert Review Green Expert Review Green NHS GMS North West GLH London North GLH GOSH PID v.8.0 Phenotypes Hermansky-Pudlak syndrome 4, 614073
Green HPS4 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Hermansky-Pudlak syndrome, 4, 614073 Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Pulmonary Disease Hermansky-Pudlak Syndrome type 4, associated with pulmonary fibrosis
Green HPS4 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.177	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Hermansky-Pudlak syndrome
Green HPS4 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 4
Green HPS4 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH London North GLH GOSH PID v.8.0 Phenotypes Hermansky-Pudlak syndrome 4, 614073
Green HPS4 in Bleeding and platelet disorders Version 3.9 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 614073 Hermansky-Pudlak syndrome 4
Green HPS4 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hermansky-Pudlak syndrome 4, 614073
Green HPS4 in Pulmonary fibrosis familial Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.7 Latest signed off version: v1.3 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 4, OMIM:614073