BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6
OMIM: 604310, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red BLOC1S6 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red GRID V2.0North West GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services, London North GLH Victorian Clinical Genetics Services, London North GLH NHS GMS GRID V2.0 GRID V2.0North West GLH Expert Review Red Phenotypes Immune Dysregulation Hermansky-pudlak syndrome 9, 614171 HPS9, palladin deficiency (NK cell defect)
Red BLOC1S6 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Hermansky-pudlak syndrome 9, 614171
Green BLOC1S6 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Hermansky-Pudlak syndrome
Green BLOC1S6 in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Hermansky-pudlak syndrome 9 614171 AR
Green BLOC1S6 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services, London North GLH NHS GMS GRID V2.0 GRID V2.0North West GLH Phenotypes Hermansky-pudlak syndrome 9, 614171 HPS9, palladin deficiency (NK cell defect) Immune Dysregulation
Green BLOC1S6 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	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 614171 ?Hermansky-pudlak syndrome 9
Amber BLOC1S6 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes HERMANSKY-PUDLAK SYNDROME 9
Green BLOC1S6 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes HERMANSKY-PUDLAK SYNDROME 9 614171
Red BLOC1S6 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Unknown	Sources Expert list